SNPJam: show

[Top]

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43601945

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	1	R [Arg] / W [Trp]
missense	NM_020630	NP_065681	2	R [Arg] / Q [Gln]
missense	NM_020975	NP_066124	2	R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCTTGACCTGACCTTCACCCTGTGGGGCCCAGCTTCCTCAGGGGAGAGTGGAGGTGCTCATCCTGCTCTCTGGGGACCTGGATGG
GACCTGCCAGCAGGGTGCCTGGGCATCGGCTGTAATTCTCCTTATAAGAGGTCTGCATTGTACCTGTTACACAGGCGAGGCTCAGTGGCT
CAGGGAAGGTGACGGCCAGGCTGGCCAGTGACCCCGTGGGAACTTGAACCCAGGTCAGACTGTCCCCAGACCTGGCTCTGACAACACACA
TCTGGTCCACCTATGGGCTGTGTGGGACGTGCAGCATTCTAAGGTCTCTGGTTTTGGGGGGTCTGAGGGGCCCATCTCGCCTGCACTGAC
CAACGCCCTCTGCATCCTGCAGGACACCGTGGTGGCCACGCTGCGTGTCTTCGATGCAGACGTGGTACCTGCATCAGGGGAGCTGGTGAG
GCGGTACACAAGCACGCTGCTCCCCGGGGACACCTGGGCCCAGCAGACCTTCC A/G GGTGGAACACTGGCCCAACGAGACCTCGGTCC
AGGCCAACGGCAGCTTCGTGCGGGCGACCGTACATGACTATAGTAAGAGGGGCTGGTGGCACGGCCTGGCTAGGCCCCCAGGAAATGAGG
TGCTCGCTCTTCATGGGCAAGCAGCACCCTACACACATGCACACCTGGCATGGCCCTCTGTGGCCCAAGCCACTTCCCCTCCACCCTCTG
CCCAGCACTTCCTGTGTCTCTGCCAGGCCTGCCCTCCAGCCACCAGCAGGGCTTTCACCATGGGACCTCTCTCCCTGAGCTGATCCATGG
CCGACCCTGGCAGGGCCCCACCACACCCCCCTGCTGACCTCACCAGGGCTCACCACCGACTGCAAACACACATGTCACCTGAGGCTTTCC
TCCAGCCCCTGGCACTCCATCGTTGCCCCTAAGGCGTCCCAAGTGCTTACGGATTATTGCTCCAGCCTCAGCAGCTCTCTGCTAAACAGG
CTGGTGTACAGAAGCAGC-3'

[Top]

RS ID: 80069458 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609077

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	3	C [Cys] / W [Trp]
missense	NM_020975	NP_066124	3	C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAG
CAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCT
CCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAG
CCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACT
GCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGA
CACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTG C/G TTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCC
CGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAAC
AAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCA
GGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACA
AGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGAC
TACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCAC
TTAGCATTTTCATAAAGA-3'

[Top]

RS ID: 79890926 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609104

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	3	C [Cys] / W [Trp]
missense	NM_020975	NP_066124	3	C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGAC
AGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTT
CAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGG
GCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGTG
GTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATT
AAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTG C/G GAGCCCGAAGACATCCAGGGTGAGTGGGTGGC
GGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGT
GGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCA
TAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGCT
GGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGA
GCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAA
AGACATTTGGAACAGAGG-3'

[Top]

RS ID: 79853121 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43622099

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	P [Pro] / L [Leu]
missense	NM_020975	NP_066124	2	P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGGCATGTGGCTGCAGTGGGCTCCCCCAGAGCCCAAGGGTTTGTCAGCGGGCTGGTTCCGTGCTGCCCATCTCCGGGTTGGGCCA
GGGGCAGCTAGATGAGGCGTCCCCCAAGGCTGCCCTCCAGGCCCTGGAGATAAGACGCTGAGGGAGCACATTTCTTTCCCCAGGGAGGTG
ACTTTCCAGGGGAAGAGACAGAATAGACAACACCCAGGGGAGTGATGGGGACCTCAGAGCAGGACCAGGCCAGCCAGGAGTCCTGGGAGC
TCTATGCAGCCTGGCCCTGGTCTCTTGGAGAGGTCAGGAGATTGGTGCGAGGTGGAGACACAGCCAGAGCCTCTGCCCTGAGGATGGCTT
GTTGTATACTGAGTTGTATCTAGTTGTGGCACATGGCTTGGAGTGACCGGCCATCTCTGTCTTCCAGGACTACTTGGACCTTGCGGCGTC
CACTCCATCTGACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACAC C/T GCTGGTGGACTGTAATAATGCCCCCCTCCCTC
GAGCCCTCCCTTCCACATGGATTGAAAACAAACTCTATGGTAGAATTTCCCATGCATTTACTAGATTCTAGCACCGCTGTCCCCTTTGCA
CTATCCTTCCTCTCTGTGATGCTTTTTAAAAATGTTTCTGGTCTGAACAAAACCAAAGTCTGCTCTGAACCTTTTTATTTGTAAATGTCT
GACTTTGCATCCAGTTTACATTTAGGCATTATTGCAACTATGTTTTTCTAAAAGGATGTGAAAATAAGTGTAATTACCACATTGCCCAGC
AACTTAGGATGGTAGAGGAAAAAACAGATCAGGGCGGAACTCTCAGGGGAGACCAAGAACAGGTTGAATAAGGCGCTTCTGGGGTGGGAA
TCAAGTCATAGTACTTCTACTTTAACTAAGTGGATAAATATACAAATCTGGGGAGGTATTCAGTTGAGAAAGGAGCCACCAGCACCACTC
AGCCTGCACTGGGAGCAC-3'

[Top]

RS ID: 79781594 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609097

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	C [Cys] / S [Ser]
missense	NM_020975	NP_066124	2	C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGA
CACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTC
CTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAG
CTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCC
TGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCG
GGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGT C/G CTTCTGCGAGCCCGAAGACATCCAGGGTGAGT
GGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGA
GGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTT
CTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCA
TGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTC
TGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAA
ATGCCAAAGACATTTGGA-3'

[Top]

RS ID: 79661516 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43600466

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	1	R [Arg] / W [Trp]
missense	NM_020630	NP_065681	2	R [Arg] / H [His]
missense	NM_020975	NP_066124	2	R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACAAAAAAAAAGCAGCCAAGGCCAGTAGCTGGCTCTCTAGGGCTGCAGTGCAGCTTGGGCTGAGGCAAAGCCACCCTTCCCCACAC
AAGGCCACTCCTGATCAAGGCCAGGTGGGCGGAGGGGTGTCCCAGTCCCTACTGGTTGATCAGGGTGCCTGGTCCTGGCTCTTCCCAACC
AGCACGAGTGAGGACGCAGCTGCAGCAGGACGTAAGCACAGTCATCGCTGCAAACTGCAAACTCGTAAGCACAGTCATCGCTGCAAACTG
CAAACTCGTGCTCCGAGCGCTGCCCTCCCCTGTGGAGCGGAGGAGGGGAGGCCTGGGGCCGCGGCGGTGTGCGCCCCGCTCTGACCGCAG
AGCCCCCTTCCCGAGGAAAGCGGCTGGCCCGGTCCCGGCTGGTGATCACGCGGGGCCCCTGTCTGCTTGGTGCGCAGGTGAGGGTCTGCC
CTTCCGCTGCGCCCCGGACAGCCTGGAGGTGAGCACGCGCTGGGCCCTGGACC A/G CGAGCAGCGGGAGAAGTACGAGCTGGTGGCCG
TGTGCACCGTGCACGCCGGCGCGCGCGAGGAGGTGGTGATGGTGCCCTTCCCGGTGACCGTGTACGACGAGGACGACTCGGCGCCCACCT
TCCCCGCGGGCGTCGACACCGCCAGCGCCGTGGTGGAGTTCAAGCGGAAGGAGGTGCTTGTCCGCGCGTGCTGTGGTCTACCCAGTGTCT
GTCTCCGGCCACAGTTCGTTTCTCGGTCGGTTTAGTGTCCGTGTAGCCACCCAACCGTGTGGCCGACCATTCGCGCTTTCATTTGTCCTT
CGCCTCCGTCTGCGCCGTCTGTCCTAGGGGGAGGGGAAGGGGGAGTCCTGCCAGCACCCAGCTGGGCCTTGCCTCGGGAGGCAAGGACCA
GGACGAGGCCCGAGGGCTCGCGTCTGGGGCATACTTGTGCCGCTGCAGGCGGGCGCGGCGCGCTGCCCGGGCGGGGAGCATCTGCCGGGA
GGGCACTCCCTCCCACCA-3'

[Top]

RS ID: 79658334 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43614996

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	V [Val] / M [Met]
missense	NM_020975	NP_066124	1	V [Val] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGCACTGTGGTCGGCACCAGTAGAGTTGGAGGCTGGGCCTGGGACAGGACAGGTGGGAACAGGGAGCAGGCTGTGTGCAGAGCC
CAGCGCCAGGCAGGAACCCTTGCATCTGCGCAGGCCTCTGCCTCCATCAGCATCCCCAGCCTGCACTGGGGCAGGACCCAGGAGGCAAAA
AGGCTTGGCGTCCTAGCATCAGGGAGGGGTGCCTCCCAGGGCAGTGTCGCCTGCCTCAGGCACCTCGAGAAGGAGGCACCCACACGAGCA
GCAGGAGGCAGAGAGCAAGTGGTTCAAGAGAAAGCTGAGGCTTCAAGGTCTGCGCTCTCCACAGAGCTGCAGCAGTGCTGCCTGAGGCAG
GGCTGTGTCCACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTG
ACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATC A/G TGGAGTACGCCAAATACGGCTCCCTGCGGGGC
TTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGG
GCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGC
TCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCA
CACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCT
GCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGA
CCGCTGCTGCCTGGCCAT-3'

[Top]

RS ID: 79014735 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43597858

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
nonsense	NM_020630	NP_065681	1	E [Glu] / X
nonsense	NM_020975	NP_066124	1	E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTATGGCGCTTCGGTGATGGAACTTGCCGGAAATGCCCCCTCTAGGCATTGGGGAAGTATGTCTGCGGCCACTCCAAACCTCCTG
AGGAGGGTGTGGCAGGGGGGGTGCTGGTCACCCCTTACTGGAGAAGTTGCCACCATCAGAGTTGGGGAGCCTTAGACCCAGTGCTCAACA
CACCTCCCTGAGGAAGGGGCCTCTAAGCCAAGAACTGAATGATGAGAGCTAGGCCTGTGGGGCATTGGTGCTGGGCAGCAGGGCTGTGCA
GCAGAGGTAAGGAGGTGGCAGGCAGAGCTGGAACACCAGTCTGAGCCTTGTGGACCTTGGTGGGGACCAGGGTTTACACCAGCCCTGGAG
CTCCTGCCTCCTCCCCATTCCCGACTGCCTGGCAGATGTGGCCGATGCCCCCACAGACCTGACTTCTCTCTGCAGACCGCGGCTTTCCCC
TGCTCACCGTCTACCTCAAGGTCTTCCTGTCACCCACATCCCTTCGTGAGGGC G/T AGTGCCAGTGGCCAGGCTGTGCCCGCGTATAC
TTCTCCTTCTTCAACACCTCCTTTCCAGCCTGCAGCTCCCTCAAGCCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATT
CGGGAGAACCGACCCCCAGGCACCTTCCACCAGTTCCGCCTGCTGCCTGTGCAGTTCTTGTGCCCCAACATCAGCGTGGCCTACAGGCTC
CTGGAGGGTGAGTGCCGACCTTGTGGGGCCGCCCCACAGTGCCTGCTACTGCTGGTCTTGCTCTGCGAGCCCTTGACACAAGCCATCTGG
TTTATTCTTCACCTTCATGCCATCAGTTCATTCAATATTCCAGAAGTACCTCTTGCATGCCTGCCAGGGGCCAGGTACTGTTCTAGGAGC
TAAGGATATAACAATGAACACAACGGGTTGGAATCTTGCCTGCCTGCAGCTTTCATTCTTGTGGGGCAGACAGAGCGTCTGAGCATGCCA
AGGAAATCAGGTGGCTTC-3'

[Top]

RS ID: 78935588 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609967

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	A [Ala] / G [Gly]
missense	NM_020975	NP_066124	2	A [Ala] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCT
AGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCT
GGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTG
GTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCG
CGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACC
ACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAG C/G CGCTGTCCTCTTCTCCTTCATCGTCTCGGTGC
TGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCC
AGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGA
TCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCC
ATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGT
GGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGG
GGCACTGAAGTCAGAAGG-3'

[Top]

RS ID: 78347871 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43617398

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	R [Arg] / P [Pro]
missense	NM_020975	NP_066124	2	R [Arg] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATGCTAAAAGCACCCTGCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCC
TTCAGTGTGGTAGCTGCTGGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAG
ATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTG
TGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGT
GGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTT
CCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTC C/G GATTCCAGTTAAATGGATGGCAATTGAATCCC
TTTTTGATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATG
TAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGA
CCCCCTCACTGAGGGGCCTTCATGATGTGTTCGTGAGGCAAATGGCTGGGCCAGGCCGGGCTGCAGTTCTGAAAGCTCCGGTAGAGCATG
AGAGCCGAGCAGGTGGCCAGTAACCCAGCCTCCCCCACCCTTGCTAGTCCCATGCCTCCCTCTGGGTCCCTTGGTGACTCAGGCCCAGCC
CAGCAGTTACCCTCCTGTGGTCCTGAGTAGGGCTTTGGGCTCAGGCAGAGCACCCAGTGACTTGCCCCCACCCACAAGTGGAGCTTGGGG
ACTCCACCTGAAGATGGC-3'

[Top]

RS ID: 78098482 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43604594

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	3	F [Phe] / L [Leu]
missense	NM_020975	NP_066124	3	F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACACAAACACCCCATACACACAGGCACCAATACCCTATGCACAGACACCACACAAATGCATACTACACACTTACACATACCACACAC
ACGCATACCATGCAAGCATATCATACACACAGACACCCCATACAATGCGTACACATGCACACACACACAGGCTGCCTCAAATTGAGAAGG
GTTCCTTGGACTTTCAGTTCAGTAAATCCCAACGTTTGAACATTGGTGCTAACTTAGGACCAGCCCCAGGCCTGTTGCATGGCACTGTAT
GTGTGAAAGTGCGTGTTTGCACCAGTGTGAGTGCAGGGCTGTGTCTGGGAAGAGGTGTGCTACACATGAGGAAGCAGCCAGAGCAGCTTG
GTGGTCATTGTTGTGCCCCTACCTGCAGGGCTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCACCATGCAGCTGGCGGTGCTG
GTCAATGACTCAGACTTCCAGGGCCCAGGAGCGGGCGTCCTCTTGCTCCACTT A/C AACGTGTCGGTGCTGCCGGTCAGCCTGCACCT
GCCCAGTACCTACTCCCTCTCCGTGAGCAGGAGGGCTCGCCGATTTGCCCAGGTGAGCCCATACCTATTGCCTGTCTGGGGAAGATTGAA
AGGCCAAGGGACATGGGGGCACAGGGAGGCAGGTGACACTGCCTCTTGGCCCAACCAGCACAGAGTAGACTGGGTGGAGTCCTGAGCCCA
GGGCCAGGAGGTACAGCTGTGTGCACAGAAGAGGCCTGGGAGAGCTCACAGTGGGCAGGGCTGGGGGCTCCTTGGGCCTCTCTTTTTTTC
CCCTTTCCATTCTTGGTATCTTTAAAATGTATTTTCAAAAATGCAAGAGCAATACTGGGTAAATCTGCATATGGTGACTCGGAAGAATCT
TCCTGGTGGATTGGTGAGAGTGGCTTGCAGAGATGTTGGTCCCACGTGACTCCCTTTGTGCAAAAGCAGATCTTCCCTGACAGGGATCTG
CAAGTGTGCAGAGATCAC-3'

[Top]

RS ID: 78014899 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613840

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	E [Glu] / E [Glu]
coding-synonymous	NM_020975	NP_066124	3	E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTC
CACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGAC
TGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTG
TGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCA
TCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGC
GATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGA A/G CTGCGAGACCTGCTGTCAGAGTTCAACGTCCT
GAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCAC
TGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTT
CTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGC
TAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTG
GGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTG
ACCCCAGCCCCGCCCTGC-3'

[Top]

RS ID: 77939446 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609070

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	C [Cys] / Y [Tyr]
missense	NM_020975	NP_066124	2	C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATT
TCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCA
CCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGT
GACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTG
GGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGT
TGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACCT A/G CAACTGCTTCCCTGAGGAGGAGAAGTGCTTCT
GCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGG
TCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGA
GGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAG
CCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCA
CACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCC
TAGCCACTTAGCATTTTC-3'

[Top]

RS ID: 77724903 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613908

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	Y [Tyr] / F [Phe]
missense	NM_020975	NP_066124	2	Y [Tyr] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAAT
GCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACT
CTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGG
CTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGT
CATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCT
GTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGT A/T TGGGGCCTGCAGCCAGGATGGTAAGGCCAGCT
GCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCC
CTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACT
TTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCAC
CCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACC
AGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCAGC
CTGGTTTGTTGGTTTTCC-3'

[Top]

RS ID: 77711105 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609990

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	V [Val] / I [Ile]
missense	NM_020975	NP_066124	1	V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAG
AAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGC
TGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGG
CAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCC
ATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGT
GCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATC A/G TCTCGGTGCTGCTGTCTGCCTTCTGCATCCAC
TGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCC
TCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGG
CAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGC
TGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTC
CCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGTG
CCTTTCTGGGGAGCCTGG-3'

[Top]

RS ID: 77709286 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609950

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	3	C [Cys] / W [Trp]
missense	NM_020975	NP_066124	3	C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTA
TATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCA
GCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCT
GTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGG
CCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCG
GTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTG C/G CGCACGGTGATCGCAGCCGCTGTCCTCTTCTC
CTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGAC
CTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTC
CGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAG
CTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTG
GGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGC
AGCAGTGTGGATGGAGGG-3'

[Top]

RS ID: 77702891 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43601894

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	1	R [Arg] / C [Cys]
missense	NM_020630	NP_065681	2	R [Arg] / Q [Gln]
missense	NM_020975	NP_066124	2	R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTGATGTACACCTGGCCTCGGAGCTCGGCTCTGCCGGCTGTTCCTGTGTGACCTTGACCTGACCTTCACCCTGTGGGGCCCAGCT
TCCTCAGGGGAGAGTGGAGGTGCTCATCCTGCTCTCTGGGGACCTGGATGGGACCTGCCAGCAGGGTGCCTGGGCATCGGCTGTAATTCT
CCTTATAAGAGGTCTGCATTGTACCTGTTACACAGGCGAGGCTCAGTGGCTCAGGGAAGGTGACGGCCAGGCTGGCCAGTGACCCCGTGG
GAACTTGAACCCAGGTCAGACTGTCCCCAGACCTGGCTCTGACAACACACATCTGGTCCACCTATGGGCTGTGTGGGACGTGCAGCATTC
TAAGGTCTCTGGTTTTGGGGGGTCTGAGGGGCCCATCTCGCCTGCACTGACCAACGCCCTCTGCATCCTGCAGGACACCGTGGTGGCCAC
GCTGCGTGTCTTCGATGCAGACGTGGTACCTGCATCAGGGGAGCTGGTGAGGC A/G GTACACAAGCACGCTGCTCCCCGGGGACACCT
GGGCCCAGCAGACCTTCCGGGTGGAACACTGGCCCAACGAGACCTCGGTCCAGGCCAACGGCAGCTTCGTGCGGGCGACCGTACATGACT
ATAGTAAGAGGGGCTGGTGGCACGGCCTGGCTAGGCCCCCAGGAAATGAGGTGCTCGCTCTTCATGGGCAAGCAGCACCCTACACACATG
CACACCTGGCATGGCCCTCTGTGGCCCAAGCCACTTCCCCTCCACCCTCTGCCCAGCACTTCCTGTGTCTCTGCCAGGCCTGCCCTCCAG
CCACCAGCAGGGCTTTCACCATGGGACCTCTCTCCCTGAGCTGATCCATGGCCGACCCTGGCAGGGCCCCACCACACCCCCCTGCTGACC
TCACCAGGGCTCACCACCGACTGCAAACACACATGTCACCTGAGGCTTTCCTCCAGCCCCTGGCACTCCATCGTTGCCCCTAAGGCGTCC
CAAGTGCTTACGGATTAT-3'

[Top]

RS ID: 77596424 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43596024

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	P [Pro] / L [Leu]
missense	NM_020975	NP_066124	2	P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTCCTGTAAAGTGCTTTCTTCATTTTTTGGCAACTGTTGCCTGCCCCACATGGGTGGCAGTGTCTCCTGCCCTTGAACACTCTGGC
TCTGGGTGACCTGTTGAGAAGTCTGTATGGTTCAGGTGCCCTTCCGGCTTGGATGATTGAGAATAGGCTTGTCACTGAGGATACTGCTTC
CCCTGTTTCCTTTTCTTTTTCTGTTTTAAAGCAGTTCTTTTCTAGCCCGTGTGTAACTATACAAATAATTGAGTGTTCATGTTCTCAGGA
ACAGAGATGAAAAACTCCTGCTAAGATCGGAATTTTAAATTAATGATTTTTTTTTTTTTTGTCCTTGAAGAAGCCTTATTCTCACCATCC
CTCACTCACTTCCCTACTTCCCACAGTGGCATTGGGCCTCTACTTCTCGAGGGATGCTTACTGGGAGAAGCTGTATGTGGACCAGGCAGC
CGGCACGCCCTTGCTGTACGTCCATGCCCTGCGGGACGCCCCTGAGGAGGTGC C/T CAGCTTCCGCCTGGGCCAGCATCTCTACGGCA
CGTACCGCACACGGCTGCATGAGAACAACTGGATCTGCATCCAGGAGGACACCGGCCTCCTCTACCTTAACCGGAGCCTGGACCATAGCT
CCTGGGAGAAGCTCAGTGTCCGCAGTAAGGGAGCCGCCCCAACACCCACCCCGTGCCCCACCCCACCCCTTCCTCAAGCCGCCCTTATCA
CAGCCGCTGACACTGAAGCTTGGCATGGCTTCCCCCCCACCGCTGGTGTGGAAGGCGTCAGGGGTTAAGTGAGGCTGGCCTGCCTCTGTG
TCCAGCCTGGAGAGAAGCCAGGACAAGCTTCAGGGCTGCGTGAGGCTGTAGGAGTTTGGAGACACACGGGAATCATCCGGGTACACTCTT
CTGCCAGACCCGAATCCCTCTTCCAGTGGGGCTAAAAAGGATTAGGAGGTTTCGAGAGAGGGAGTAAGTGGGGCTGGAAAAATCCCAAGG
TTTTGATTTAGCAAATGA-3'

[Top]

RS ID: 77558292 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609069

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	C [Cys] / R [Arg]
missense	NM_020975	NP_066124	1	C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGAT
TTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCC
ACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTG
TGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTT
GGGACACTGCCCTGGAAATATGGGCGCCTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTG
TTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGCACC C/T GCAACTGCTTCCCTGAGGAGGAGAAGTGCTTC
TGCGAGCCCGAAGACATCCAGGGTGAGTGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAG
GTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAG
AGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCA
GCCTGACAAGTCACTGTCCCTGTGACCATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCC
ACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCC
CTAGCCACTTAGCATTTT-3'

[Top]

RS ID: 77503355 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43609103

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	C [Cys] / F [Phe]
missense	NM_020975	NP_066124	2	C [Cys] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGA
CAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGT
TCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCTG
GGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGGT
GGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGAT
TAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCT A/G CGAGCCCGAAGACATCCAGGGTGAGTGGGTGG
CGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGAG
TGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGCC
ATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAGC
TGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTG
AGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCA
AAGACATTTGGAACAGAG-3'

[Top]

RS ID: 77316810 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43609102

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	C [Cys] / R [Arg]
missense	NM_020975	NP_066124	1	C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTG
ACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTG
TTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAAGCTGCT
GGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGCCTGGGG
TGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGA
TTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTC C/T GCGAGCCCGAAGACATCCAGGGTGAGTGGGTG
GCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGGAGGCGA
GTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCTTCTGGC
CATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACCATGCAG
CTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCT
GAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCC
AAAGACATTTGGAACAGA-3'

[Top]

RS ID: 76764689 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43595928

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	S [Ser] / L [Leu]
missense	NM_020975	NP_066124	2	S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCATTTGATAGACGTATGTTTTCACTTTTCTTGGATGAATGGAGTGGAATTGCAGGGTCATATGGTAGGCGTATGTTTAGATAAAG
ATTTATGACTTTCCTGTAAAGTGCTTTCTTCATTTTTTGGCAACTGTTGCCTGCCCCACATGGGTGGCAGTGTCTCCTGCCCTTGAACAC
TCTGGCTCTGGGTGACCTGTTGAGAAGTCTGTATGGTTCAGGTGCCCTTCCGGCTTGGATGATTGAGAATAGGCTTGTCACTGAGGATAC
TGCTTCCCCTGTTTCCTTTTCTTTTTCTGTTTTAAAGCAGTTCTTTTCTAGCCCGTGTGTAACTATACAAATAATTGAGTGTTCATGTTC
TCAGGAACAGAGATGAAAAACTCCTGCTAAGATCGGAATTTTAAATTAATGATTTTTTTTTTTTTTGTCCTTGAAGAAGCCTTATTCTCA
CCATCCCTCACTCACTTCCCTACTTCCCACAGTGGCATTGGGCCTCTACTTCT C/T GAGGGATGCTTACTGGGAGAAGCTGTATGTGG
ACCAGGCAGCCGGCACGCCCTTGCTGTACGTCCATGCCCTGCGGGACGCCCCTGAGGAGGTGCCCAGCTTCCGCCTGGGCCAGCATCTCT
ACGGCACGTACCGCACACGGCTGCATGAGAACAACTGGATCTGCATCCAGGAGGACACCGGCCTCCTCTACCTTAACCGGAGCCTGGACC
ATAGCTCCTGGGAGAAGCTCAGTGTCCGCAGTAAGGGAGCCGCCCCAACACCCACCCCGTGCCCCACCCCACCCCTTCCTCAAGCCGCCC
TTATCACAGCCGCTGACACTGAAGCTTGGCATGGCTTCCCCCCCACCGCTGGTGTGGAAGGCGTCAGGGGTTAAGTGAGGCTGGCCTGCC
TCTGTGTCCAGCCTGGAGAGAAGCCAGGACAAGCTTCAGGGCTGCGTGAGGCTGTAGGAGTTTGGAGACACACGGGAATCATCCGGGTAC
ACTCTTCTGCCAGACCCG-3'

[Top]

RS ID: 76736111 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43598044

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	P [Pro] / T [Thr]
missense	NM_020975	NP_066124	1	P [Pro] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGAAGGGGCCTCTAAGCCAAGAACTGAATGATGAGAGCTAGGCCTGTGGGGCATTGGTGCTGGGCAGCAGGGCTGTGCAGCAGAG
GTAAGGAGGTGGCAGGCAGAGCTGGAACACCAGTCTGAGCCTTGTGGACCTTGGTGGGGACCAGGGTTTACACCAGCCCTGGAGCTCCTG
CCTCCTCCCCATTCCCGACTGCCTGGCAGATGTGGCCGATGCCCCCACAGACCTGACTTCTCTCTGCAGACCGCGGCTTTCCCCTGCTCA
CCGTCTACCTCAAGGTCTTCCTGTCACCCACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTGCCCGCGTATACTTCTCCTTCT
TCAACACCTCCTTTCCAGCCTGCAGCTCCCTCAAGCCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATTCGGGAGAACC
GACCCCCAGGCACCTTCCACCAGTTCCGCCTGCTGCCTGTGCAGTTCTTGTGC A/C CCAACATCAGCGTGGCCTACAGGCTCCTGGAG
GGTGAGTGCCGACCTTGTGGGGCCGCCCCACAGTGCCTGCTACTGCTGGTCTTGCTCTGCGAGCCCTTGACACAAGCCATCTGGTTTATT
CTTCACCTTCATGCCATCAGTTCATTCAATATTCCAGAAGTACCTCTTGCATGCCTGCCAGGGGCCAGGTACTGTTCTAGGAGCTAAGGA
TATAACAATGAACACAACGGGTTGGAATCTTGCCTGCCTGCAGCTTTCATTCTTGTGGGGCAGACAGAGCGTCTGAGCATGCCAAGGAAA
TCAGGTGGCTTCTGGAAGGAGCTAGCTGGGGAGGAAACTGGGAAGAGGGAAACGCTGAAGAGGAGGGGAACAGACGAGGAGACCTCCATT
CCTCTATCGTAAATTGGGTGGTCAGGGTGGGGGCTAGCAGAGCAAAGGTGGGAGGGTGCCGGGTAGGCAGGCCTAGCCCCTTGGAGGGCA
CCACAGTGTGACCCTCGT-3'

[Top]

RS ID: 76534745 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43619231

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	R [Arg] / G [Gly]
missense	NM_020975	NP_066124	1	R [Arg] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGTGGCCTGCATTCTCACCGCTTTAAGTGTGAGAATCTTAAGAATTATTAAGATTAATTCATGATATTAATTAATGTATCATTAAT
TCATTAATCATGAATTCATCTTAAGCCTCATGTGTCCCTTGTGCGTGTGGCTGCTCTGATGGGAGTGGCTTGGGCAAGGACTTCAGCTTC
ATGGAGTAGGGGCCAGGCAGGCAGGCAGCCCTTCCCCACCTTCATGCTACATCCATCTGAGCAGCCAGACCCAGGCTGACATCTGTGAGC
ATCTGTGCTTGAAGCCGACAGGGTCAGCAGGTGCTTGGTGGTGGGGGTGGATATCTGGGCCCCCCGGAGGGCTCTGTGAGGGCCAGGTGG
AGCCACTCACTGGTCCTTTCACTCTCTGCAGATGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTG
GGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCCACCGGATGGAG A/G GGCCAGACAACTGCAGCGAGGAGATGTGAGCG
GGGACTGGCTTTGGCCCAGCCTCACTTGGGAAGGGAGGGGACATCTGTGTGCATTCCCTCCCCATCCAGAGCAGCCCCAGGAGAAACCAG
GAGAAGTGGGGGGTGGGGAGTGGGCAGGGCAGAGGTTAGAGAGCCATCCTTGGGTGTGGCAGTAGATGCTGGGGGTCCTACCCCACTGAG
GGCTGGTGGGCTTCCTAGGGGGTCTTATAAAAATGAGTGAGAGCAGAGACTGGTGCAATGCAAGCTCAAGGGCTGAGAGCTGTCCCAGCA
GGACACTTAGGGAGGAGAAGGTAATTCCAGATGGCCCAGGGGGCACGTGTTAAGGGGTGCCTGAGTGGAGGTGCAGAGCCAGGCAGGGGC
AGCCTGGGCTGCAACCTGAGAGGTTGAAACCTTTACACTCTCAGGGGAGATGGTCTTAGAAACCAGGCTGAGAACAGATGAGAAAGGGCT
GCCCAGAGGCAGAGATGC-3'

[Top]

RS ID: 76449634 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43597990

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
nonsense	NM_020630	NP_065681	1	R [Arg] / X
nonsense	NM_020975	NP_066124	1	R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTGCCACCATCAGAGTTGGGGAGCCTTAGACCCAGTGCTCAACACACCTCCCTGAGGAAGGGGCCTCTAAGCCAAGAACTGAATGA
TGAGAGCTAGGCCTGTGGGGCATTGGTGCTGGGCAGCAGGGCTGTGCAGCAGAGGTAAGGAGGTGGCAGGCAGAGCTGGAACACCAGTCT
GAGCCTTGTGGACCTTGGTGGGGACCAGGGTTTACACCAGCCCTGGAGCTCCTGCCTCCTCCCCATTCCCGACTGCCTGGCAGATGTGGC
CGATGCCCCCACAGACCTGACTTCTCTCTGCAGACCGCGGCTTTCCCCTGCTCACCGTCTACCTCAAGGTCTTCCTGTCACCCACATCCC
TTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTGCCCGCGTATACTTCTCCTTCTTCAACACCTCCTTTCCAGCCTGCAGCTCCCTCAAGC
CCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATTCGGGAGAAC C/T GACCCCCAGGCACCTTCCACCAGTTCCGCCTG
CTGCCTGTGCAGTTCTTGTGCCCCAACATCAGCGTGGCCTACAGGCTCCTGGAGGGTGAGTGCCGACCTTGTGGGGCCGCCCCACAGTGC
CTGCTACTGCTGGTCTTGCTCTGCGAGCCCTTGACACAAGCCATCTGGTTTATTCTTCACCTTCATGCCATCAGTTCATTCAATATTCCA
GAAGTACCTCTTGCATGCCTGCCAGGGGCCAGGTACTGTTCTAGGAGCTAAGGATATAACAATGAACACAACGGGTTGGAATCTTGCCTG
CCTGCAGCTTTCATTCTTGTGGGGCAGACAGAGCGTCTGAGCATGCCAAGGAAATCAGGTGGCTTCTGGAAGGAGCTAGCTGGGGAGGAA
ACTGGGAAGAGGGAAACGCTGAAGAGGAGGGGAACAGACGAGGAGACCTCCATTCCTCTATCGTAAATTGGGTGGTCAGGGTGGGGGCTA
GCAGAGCAAAGGTGGGAG-3'

[Top]

RS ID: 76397662 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43597793

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	R [Arg] / H [His]
missense	NM_020975	NP_066124	2	R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGAGCAGCCGCCCACCTAGGGCTGAGATGGAGGCTGGGAAAGCCCTCGCAGCCCAGCTGAAATGGCTATGGCGCTTCGGTGATGG
AACTTGCCGGAAATGCCCCCTCTAGGCATTGGGGAAGTATGTCTGCGGCCACTCCAAACCTCCTGAGGAGGGTGTGGCAGGGGGGGTGCT
GGTCACCCCTTACTGGAGAAGTTGCCACCATCAGAGTTGGGGAGCCTTAGACCCAGTGCTCAACACACCTCCCTGAGGAAGGGGCCTCTA
AGCCAAGAACTGAATGATGAGAGCTAGGCCTGTGGGGCATTGGTGCTGGGCAGCAGGGCTGTGCAGCAGAGGTAAGGAGGTGGCAGGCAG
AGCTGGAACACCAGTCTGAGCCTTGTGGACCTTGGTGGGGACCAGGGTTTACACCAGCCCTGGAGCTCCTGCCTCCTCCCCATTCCCGAC
TGCCTGGCAGATGTGGCCGATGCCCCCACAGACCTGACTTCTCTCTGCAGACC A/G CGGCTTTCCCCTGCTCACCGTCTACCTCAAGG
TCTTCCTGTCACCCACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTGCCCGCGTATACTTCTCCTTCTTCAACACCTCCTTTC
CAGCCTGCAGCTCCCTCAAGCCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATTCGGGAGAACCGACCCCCAGGCACCT
TCCACCAGTTCCGCCTGCTGCCTGTGCAGTTCTTGTGCCCCAACATCAGCGTGGCCTACAGGCTCCTGGAGGGTGAGTGCCGACCTTGTG
GGGCCGCCCCACAGTGCCTGCTACTGCTGGTCTTGCTCTGCGAGCCCTTGACACAAGCCATCTGGTTTATTCTTCACCTTCATGCCATCA
GTTCATTCAATATTCCAGAAGTACCTCTTGCATGCCTGCCAGGGGCCAGGTACTGTTCTAGGAGCTAAGGATATAACAATGAACACAACG
GGTTGGAATCTTGCCTGC-3'

[Top]

RS ID: 76262710 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43609096

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	C [Cys] / G [Gly]
missense	NM_020975	NP_066124	1	C [Cys] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGGACCCACAGACTGTCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGG
ACACTGACAGGGAAAGTGCGGCCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGT
CCTTTGTTCAGATGAAATGTTAGGAGGGGGCCTGGCTTCACCCATGGCTTCAGAAAGGCACTGTGACCAAGCCCTGCCCGGCTAAGCCAA
GCTGCTGGGCCCCTGGCCTCACTGGGCCTATGCTTGCGACACCAGTTGGGGAGGGGGCTCCTTGGGACACTGCCCTGGAAATATGGGCGC
CTGGGGTGGTCAGGCGCCCCAGGAGGCTGAGTGGGCTACGTCTGCCCTCAGGGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCC
GGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAG C/T GCTTCTGCGAGCCCGAAGACATCCAGGGTGAG
TGGGTGGCGGCCGGGACCACCACCACCTCCCAGCCCCACAGAGGTCTCAACAGCACATCTGAGGTCCCAACAAGGGAGGAAATTGCTGGG
AGGCGAGTGGGCCCCATGAAACTTCCCTCCCTCCCTCTGGGCCTCTGTTACTCCACCCAGGAGAGGGGCCAGGGCCCCTGTAAAGTGTCT
TCTGGCCATAAGTTCTATGATGGACAGGCCAGAAAAGCAGTTCTTCCACCAAACAACTTGTCAGCCTGACAAGTCACTGTCCCTGTGACC
ATGCAGCTGGGACCCACCCAGGAACACATTTCAAGGTCAGCAGGTATGGTGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTT
CTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAA
AATGCCAAAGACATTTGG-3'

[Top]

RS ID: 76087194 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43615611

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	R [Arg] / Q [Gln]
missense	NM_020975	NP_066124	2	R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGC
GTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCC
CCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCC
ACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGC
TGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAA
CATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCC A/G AGATGTTTATGAAGAGGATTCCTACGTGAAGA
GGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGG
AAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAA
CTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACT
TTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAA
AGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGCTTCTCCCGCACAGGGGCCT
TGGACACTGGGCTGGGTG-3'

[Top]

RS ID: 75996173 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43609949

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	C [Cys] / F [Phe]
missense	NM_020975	NP_066124	2	C [Cys] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATT
ATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCC
AGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATC
TGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATG
GCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGC
GGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGT A/G CCGCACGGTGATCGCAGCCGCTGTCCTCTTCT
CCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGA
CCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCT
CCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCA
GCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGT
GGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAG
CAGCAGTGTGGATGGAGG-3'

[Top]

RS ID: 75873440 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43607621

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	G [Gly] / C [Cys]
missense	NM_020975	NP_066124	1	G [Gly] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCC
TCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGG
CTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTGCCCTGCGCCCTG
TGCTCCTGGCACTGTCTTTGCTGCCCTGGGTCTGTCACTCCGGTCCCCTTGGGCTCCATCCGTGGGCAGCTCAGCTGGTGCTGTTCCCTG
TCCTTGGGCACTAGCTGGACGCTGGGCCCAGGCCAGCCCCCTGTGACCCTGCTTGTCTGCCACCTGCAGATGTGGCCGAGGAGGCGGGCT
GCCCCCTGTCCTGTGCAGTCAGCAAGAGACGGCTGGAGTGTGAGGAGTGTGGC G/T GCCTGGGCTCCCCAACAGGCAGGTGTGAGTGG
AGGCAAGGAGATGGCAAAGGTAAGCCCTGGAAACGCCCAAGGGAGGCCTGCAGGGGCGATGGCACCGGTGGAAACGGGGTCCTGGGGCCC
TGCCAGCCTGGGGTGGCTCTCCCTGCTCCAGGTCTGCTTCTGGCACCTCATCCCCCATGTGGCTCTCGATGCCAGCATAGCGGGCAGCAG
TGCAGGGCTTGGGAGAGGGCTTGTGAGTACAGTGAATGGTCCCCAGGCCGGATTCACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGG
ATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGA
GGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTG
TGAGGAACCCCCCATACC-3'

[Top]

RS ID: 75686697 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613868

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	V [Val] / I [Ile]
missense	NM_020975	NP_066124	1	V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAG
TGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAA
CATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTT
CCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAAC
TTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCA
TTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAAC A/G TCCTGAAGCAGGTCAACCACCCACATGTCATC
AAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGC
CCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTG
GAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCT
ACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTG
CATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAA
CATTGTCACCATTTCTCA-3'

[Top]

RS ID: 75234356 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43615592

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	S [Ser] / A [Ala]
missense	NM_020975	NP_066124	1	S [Ser] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTAT
CTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCAC
ACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCCTGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGC
CATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCCAGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCC
TCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATC
GGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATT G/T CGGATTTCGGCTTGTCCCGAGATGTTTATGAA
GAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAG
TGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCTTTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTC
CCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTCCAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGAC
CCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAACAGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATG
ACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGTCATTCTTTGCAAAAAGGAATGAACTGCTTTACAAGTGAGGC
TTCTCCCGCACAGGGGCC-3'

[Top]

RS ID: 75225191 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609989

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	I [Ile] / I [Ile]
coding-synonymous	NM_020975	NP_066124	3	I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTATTATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAA
GAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGCCAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTG
CTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCATCTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATG
GCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGC
CATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTG
TGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCAT C/T GTCTCGGTGCTGCTGTCTGCCTTCTGCATCCA
CTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTC
CTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGG
GCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACG
CTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTT
CCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGAGCAGCAGTGTGGATGGAGGGGCACTGAAGTCAGAAGGGGGT
GCCTTTCTGGGGAGCCTG-3'

[Top]

RS ID: 75076352 Link_out

Alleles: G/T

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43609948

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	C [Cys] / G [Gly]
missense	NM_020975	NP_066124	1	C [Cys] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTTGCACAGCCACACTGACTACACTCAGGGGTGCTGTTCTGCCTGAGCATAGGGACACGTTTCTGTCATTGAGTTTTCTGGTAT
TATATAGCCCTACGTCCCTAGCCACTTAGCATTTTCATAAAGAAAATGCCAAAGACATTTGGAACAGAGGAAAATTTTGACCTCCCCTGC
CAGCCCTCCAGTGCCAGCTGGTGTAATGAGCACAGCCTCTGCTGTGTGACCTTGGCAGGCTGCTCAGCCTCTCTGAGCCTCTGTCTCCAT
CTGTAAGAGGGCAATAGTGGTCTAGGAGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCAT
GGCCACTTCCCAGCTGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGG
CGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTG G/T GCCGCACGGTGATCGCAGCCGCTGTCCTCTTC
TCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATG
ACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTC
TCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCC
AGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTG
TGGGGACAGTCTGTGGGGTGGGACTGTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGGGA
GCAGCAGTGTGGATGGAG-3'

[Top]

RS ID: 75075748 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613829

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	S [Ser] / P [Pro]
missense	NM_020975	NP_066124	1	S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGCACAGGAGATGCCTGGGCTCCAGGCTGGCCATCTCAGACAGGAGCGGGAAATGGGGAGCCTGGTCGCGGTGTGTGGACCTCCT
TTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTAATGCGGGGAATTT
CTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGA
TCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGC
CTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGG
CTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCC C/T CCCCGAGTGAGCTGCGAGACCTGCTGTCAGAG
TTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAGGCCAGCTGCAGGGTGAGG
TGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTGCCCTGTTTCCTGT
TCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCACTTTCCATCAGAG
GGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTCACCCAGTTCGGGG
CTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCACCAGGTGTGCTGT
GACCTCAGGTGACCCCAG-3'

[Top]

RS ID: 75030001 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613906

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	3	L [Leu] / F [Phe]
missense	NM_020975	NP_066124	3	L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGACCTCCTTTATGGCTCTCCACCTTCTCCAGGGCCTCTCCCGACAAGTGGGTGTGTGGGTACCCCTCACCTTTCCAGAATGATTA
ATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACA
CTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAA
GGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATG
GTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTG
CTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCATCAAATT C/G TATGGGGCCTGCAGCCAGGATGGTAAGGCCAG
CTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGCTCCTG
CCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGTGGTCA
CTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTGTCCTC
ACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCACAGGGCA
CCAGGTGTGCTGTGACCTCAGGTGACCCCAGCCCCGCCCTGCATGGCAGGAACATTGTCACCATTTCTCAGATAAAGACCCAGGAGACCA
GCCTGGTTTGTTGGTTTT-3'

[Top]

RS ID: 74799832 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43617416

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	M [Met] / T [Thr]
missense	NM_020975	NP_066124	2	M [Met] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAATACAATAAGAGAGAAAAAACAGCCTCCCCCAAGGCACACAGACAAATCCCTTCCCTCAAGGCTCCTTCAGTGTGGTAGCTGCT
GGCAAAGTGCCCAACATGGAAATGCTAGATGTTGGTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTC
CAGGCCCATGCATAGGGAAGCACTGCTCTGCACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGC
TGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAG
GAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAA
CTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGA C/T GGCAATTGAATCCCTTTTTGATCATATCTACA
CCACGCAAAGTGATGTGTAAGTGTGGGTGTTGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCC
CGTCTGTGCAGCTTGGCCAGGGAATTGCACTGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCC
TTCATGATGTGTTCGTGAGGCAAATGGCTGGGCCAGGCCGGGCTGCAGTTCTGAAAGCTCCGGTAGAGCATGAGAGCCGAGCAGGTGGCC
AGTAACCCAGCCTCCCCCACCCTTGCTAGTCCCATGCCTCCCTCTGGGTCCCTTGGTGACTCAGGCCCAGCCCAGCAGTTACCCTCCTGT
GGTCCTGAGTAGGGCTTTGGGCTCAGGCAGAGCACCCAGTGACTTGCCCCCACCCACAAGTGGAGCTTGGGGACTCCACCTGAAGATGGC
CTTGTGTGAGTTTATAGA-3'

[Top]

RS ID: 67691515 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43613891

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	3	P [Pro] / P [Pro]
frameshift	NM_020975	NP_066124	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGCGGGGAATTTCTGTGGACGACTGTCTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGG
GACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCC
CAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGG
TATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGA
CCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCA -/C CATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGTAAG
GCCAGCTGCAGGGTGAGGTGGGCAGCCACTGCACCCAGGCTGGGGGCTCCATACAGCCCTGTTCTCCCTCTTTCTCCCTTTCCCTACTGC
TCCTGCCCTGTTTCCTGTTCTCCCTCTTTCTGGAAGCCTGGCTCAGGCCCCAGCCTGGAGCTTGTGTCTAGCTGAGTCCACGGGCTGAGT
GGTCACTTTCCATCAGAGGGGCCCCGCGCTAGCGGCACTCCCTGGGCCCACAGGGCTACTCAGAGGTCTCTGGTGTGACACTGCCATGTG
TCCTCACCCAGTTCGGGGCTGGGCCCGTGGGGCAGGGAGCTCTAGGAATGGACAGTGCATCCTGGGTACTAGGGTACCCTGGGTACCA-3
'

[Top]

RS ID: 67595530 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43608391

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	2	Not Applicable
frameshift	NM_020975	NP_066124	2	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGG
CCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAG
GCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGC
GGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTCTCCACCTGCTCTCCCAGCACCAAGACCTGC
CCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACA -/T TTGCCCTCAGGACTGCCTCCGTAAGCAGGGTTTAATCAGGGC
ATGGGAACAGGTAGGAGATAGTAGGGGAAACCTGGATCCCACAGGCACTTCAGCCAGAGTTGCCAGGGCTGTCAGTTCTATGCATCAAGC
TGAGCCTCCTGTGCATTTCAGCATCACCCTAGCCATGGGGAGGGAGCAGGCAGGGTCAGGGACAGGGGGAAGGCAGGGACCCACAGACTG
TCCAGGCCCCTGCTGAGGTCCCAGAAGTCGGCACACACAGATTTCAGAAGCAGAGAATGGTCAGTAGGGACACTGACAGGGAAAGTGCGG
CCCTGAGCCAGACGAGGGACACTGCAATGTGCGGGTCAGGCCACCAGGCTCCAGTTTTGGAGGCAGAGTCCTTTGTTCAGATGAAAT-3'

[Top]

RS ID: 66858251 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43612042

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	2	Not Applicable
frameshift	NM_020975	NP_066124	2	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGTGGCGCCTTTCTTTGCAGGGGTGGCTATGTAGAGAAGTTGTCCTGGACACTTCCACTGTAGTCAGAGGTCCTGGGCTGGGCCTG
GTGCTCATTTAGTCCTGGGGCAGGGGTCAGGGGAGACAGTAGACCAGGAACCAGAGAGGGTCGAAGTACTGAGTCCAAGCCATGCTGTGA
CCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGAC
AGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCC
CCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAA -/A GTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCT
AGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCT
GAAAGGTACCTGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACC
CTGAAGAGCCCCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACT
TTGCTCTCCCTGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCCCTTTGATTT-3'

[Top]

RS ID: 66698110 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43617436

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	1	E [Glu] / X
frameshift	NM_020975	NP_066124	1	E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTTCCCAAACACATTGGCCCTCAGAACCCCAGGGGAGATCTTGCAGGGGGAGTTCCAGGCCCATGCATAGGGAAGCACTGCTCTGC
ACTACCAGCAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAG
GAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAA
AGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAG
GGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTG -/T ATCATATCTACACCACGCAAAGTGATGTGTAAGTGTGGGTGT
TGCTCTCTTGGGGTGGAGGTTACAGAAACACCCTTATACATGTAGTGGGGCCACGACGCCCGTCTGTGCAGCTTGGCCAGGGAATTGCAC
TGGCCCTGAGCACCTGTCTGCAGTGCTAGCCCTCTGCAATGACCCCCTCACTGAGGGGCCTTCATGATGTGTTCGTGAGGCAAATGGCTG
GGCCAGGCCGGGCTGCAGTTCTGAAAGCTCCGGTAGAGCATGAGAGCCGAGCAGGTGGCCAGTAACCCAGCCTCCCCCACCCTTGCTAGT
CCCATGCCTCCCTCTGGGTCCCTTGGTGACTCAGGCCCAGCCCAGCAGTTACCCTCCTGTGGTCCTGAGTAGGGCTTTGGGCTCAGGC-3
'

[Top]

RS ID: 66596996 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43607652

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	2	Not Applicable
frameshift	NM_020975	NP_066124	2	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGG
TGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTGCCCTGCGCCCTGTGCTCCTGGCACTGTCTTTGCTGCCCTGGGTCTGTCACTCC
GGTCCCCTTGGGCTCCATCCGTGGGCAGCTCAGCTGGTGCTGTTCCCTGTCCTTGGGCACTAGCTGGACGCTGGGCCCAGGCCAGCCCCC
TGTGACCCTGCTTGTCTGCCACCTGCAGATGTGGCCGAGGAGGCGGGCTGCCCCCTGTCCTGTGCAGTCAGCAAGAGACGGCTGGAGTGT
GAGGAGTGTGGCGGCCTGGGCTCCCCAACAGGCAGGTGTGAGT -/G GAGGCAAGGAGATGGCAAAGGTAAGCCCTGGAAACGCCCAAG
GGAGGCCTGCAGGGGCGATGGCACCGGTGGAAACGGGGTCCTGGGGCCCTGCCAGCCTGGGGTGGCTCTCCCTGCTCCAGGTCTGCTTCT
GGCACCTCATCCCCCATGTGGCTCTCGATGCCAGCATAGCGGGCAGCAGTGCAGGGCTTGGGAGAGGGCTTGTGAGTACAGTGAATGGTC
CCCAGGCCGGATTCACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCG
GCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTC-3'

[Top]

RS ID: 61843232 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43600514

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	1	A [Ala] / S [Ser]
missense	NM_020630	NP_065681	2	A [Ala] / D [Asp]
missense	NM_020975	NP_066124	2	A [Ala] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGAGCGGAGGAGGGGAGGCCTGGGGCCGCGGCGGTGTGCGCCCCGCTCTGACCGCAGAGCCCCCTTCCCGAGGAAAGCGGCTGGC
CCGGTCCCGGCTGGTGATCACGCGGGGCCCCTGTCTGCTTGGTGCGCAGGTGAGGGTCTGCCCTTCCGCTGCGCCCCGGACAGCCTGGAG
GTGAGCACGCGCTGGGCCCTGGACCGCGAGCAGCGGGAGAAGTACGAGCTGGTGGCCGTGTGCACCGTGCACG A/C CGGCGCGCGCGA
GGAGGTGGTGATGGTGCCCTTCCCGGTGACCGTGTACGACGAGGACGACTCGGCGCCCACCTTCCCCGCGGGCGTCGACACCGCCAGCGC
CGTGGTGGAGTTCAAGCGGAAGGAGGTGCTTGTCCGCGCGTGCTGTGGTCTACCCAGTGTCTGTCTCCGGCCACAGTTCGTTTCTCGGTC
GGTTTAGTGTCCGTGTAGCCACCCAACCGTGTGGCCGACCATTCGCGCTTTCATTTGT-3'

[Top]

RS ID: 56195026 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43615109

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	P [Pro] / P [Pro]
coding-synonymous	NM_020975	NP_066124	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATC
GTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGC
AACTCCAGCTCCCTGGACCACCC A/G GATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGAT
GCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGC
CACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCC-3'

[Top]

RS ID: 55947360 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43615117

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	R [Arg] / L [Leu]
missense	NM_020975	NP_066124	2	R [Arg] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTA
CGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAG
CTCCCTGGACCACCCGGATGAGC G/T GGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATC
TGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCACCCACA
CCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCC-3'

[Top]

RS ID: 55862116 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43610085

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	P [Pro] / P [Pro]
coding-synonymous	NM_020975	NP_066124	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCT
GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCA
GCTGAGATGACCTTCCGGAGGCC C/T GCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCAT
GGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCC
AGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTG-3'

[Top]

RS ID: 55846256 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43609941

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	D [Asp] / D [Asp]
coding-synonymous	NM_020975	NP_066124	3	D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGGGCAGTAAATGGCAGTACCCATGCTCGATGGGGTGTTCTCAGGCCTTCCCACACCTCCATGGCCACTTCCCAGCTGGCGCGGA
CACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCC
CCACCCACAGATCCACTGTGCGA C/T GAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCT
GTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGC
CTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGA-3'

[Top]

RS ID: 55810667 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43598049

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	N [Asn] / N [Asn]
coding-synonymous	NM_020975	NP_066124	3	N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGTGAGGGCGAGTGCCAGTGGCCAGGCTGTGCCCGCGTATACTTCTCCTTCTTCAACACCTCCTTTCCAGCCTGCAGCTCCCTCAAG
CCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATTCGGGAGAACCGACCCCCAGGCACCTTCCACCAGTTCCGCCTGCTG
CCTGTGCAGTTCTTGTGCCCCAA C/T ATCAGCGTGGCCTACAGGCTCCTGGAGGGTGAGTGCCGACCTTGTGGGGCCGCCCCACAGTG
CCTGCTACTGCTGGTCTTGCTCTGCGAGCCCTTGACACAAGCCATCTGGTTTATTCTTCACCTTCATGCCATCAGTTCATTCAATATTCC
AGAAGTACCTCTTGCATGCCTGCCAGGGGCCAGGTACTGTTCTAGGAG-3'

[Top]

RS ID: 41306550 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43600608

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	XM_002342982	XP_002343023	3	A [Ala] / A [Ala]
coding-synonymous	NM_020630	NP_065681	3	T [Thr] / T [Thr]
coding-synonymous	NM_020975	NP_066124	3	T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAGCACAGTCATCGCTGCAAACTGCAAACTCGTGCTCCGAGCGCTGCCCTCCCCTGTGGAGCGGAGGAGGGGAGGCCTGGGGCCGC
GGCGGTGTGCGCCCCGCTCTGACCGCAGAGCCCCCTTCCCGAGGAAAGCGGCTGGCCCGGTCCCGGCTGGTGATCACGCGGGGCCCCTGT
CTGCTTGGTGCGCAGGTGAGGGTCTGCCCTTCCGCTGCGCCCCGGACAGCCTGGAGGTGAGCACGCGCTGGGCCCTGGACCGCGAGCAGC
GGGAGAAGTACGAGCTGGTGGCCGTGTGCACCGTGCACGCCGGCGCGCGCGAGGAGGTGGTGATGGTGCCCTTCCCGGTGACCGTGTACG
ACGAGGACGACTCGGCGCCCACCTTCCCCGCGGGCGTCGACAC C/T GCCAGCGCCGTGGTGGAGTTCAAGCGGAAGGAGGTGCTTGTC
CGCGCGTGCTGTGGTCTACCCAGTGTCTGTCTCCGGCCACAGTTCGTTTCTCGGTCGGTTTAGTGTCCGTGTAGCCACCCAACCGTGTGG
CCGACCATTCGCGCTTTCATTTGTCCTTCGCCTCCGTCTGCGCCGTCTGTCCTAGGGGGAGGGGAAGGGGGAGTCCTGCCAGCACCCAGC
TGGGCCTTGCCTCGGGAGGCAAGGACCAGGACGAGGCCCGAGGGCTCGCGTCTGGGGCATACTTGTGCCGCTGCAGGCGGGCGCGGCGCG
CTGCCCGGGCGGGGAGCATCTGCCGGGAGGGCACTCCCTCCCACCAGCAGTTAGCCCCCAACGGGAGGGCCCTTGAGTGACCACGAGC-3
'

[Top]

RS ID: 36008607 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43601824

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	1	E [Glu] / G [Gly]
frameshift	NM_020975	NP_066124	1	E [Glu] / G [Gly]
intron	XM_002342982	Not Applicable	Not Applicable	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGATGGGACCTGCCAGCAGGGTGCCTGGGCATCGGCTGTAATTCTCCTTATAAGAGGTCTGCATTGTACCTGTTACACAGGCGAGG
CTCAGTGGCTCAGGGAAGGTGACGGCCAGGCTGGCCAGTGACCCCGTGGGAACTTGAACCCAGGTCAGACTGTCCCCAGACCTGGCTCTG
ACAACACACATCTGGTCCACCTATGGGCTGTGTGGGACGTGCAGCATCCTAAGGTCTCTGGTTTTGGGGGGTCTGAGGGGCCCATCTCGC
CTGCACTGACCAACGCCCTCTGCATCCTGCAGG -/G ACACCGTGGTGGCCACGCTGCGTGTCTTCGATGCAGACGTGGTACCTGCATC
AGGGGAGCTGGTGAGGCGGTACACAAGCACGCTGCTCCCCGGGGACACCTGGGCCCAGCAGACCTTCCGGGTGGAACACTGGCCCAACGA
GACCTCGGTCCAGGCCAACGGCAGCTTCGTGCGGGCGACCGTACATGACTATAGTAAGAGGGGCTGGTGGCACGGCCTGGCTAGGCCCCC
AGGAAATGAGGTGCTCGCTCTTCATGGGCAAGCAGCACCCTACACACATGCACACCTGGCATGGCCCT-3'

[Top]

RS ID: 35938496 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43612132

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_020630	NP_065681	2	L [Leu] / R [Arg]
frameshift	NM_020975	NP_066124	2	L [Leu] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCCGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTC
TGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCC
CCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATT
TGGAAAAGTGGTCAAGGCAACGGCCTTCCATCT -/G GAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACC
TGCCAGGCACAGGCACAGTGCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCC
CCCAATGCTGTTCTAGAGCGGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAGCAGAGCGAGGACTTTGCTCTCCC
TGGAAGGCTCTAGAGGTGTTGCTGTGCCAGTGCCACTGAAGATCTAAGCTTTAAACATTTAAAAAGCC-3'

[Top]

RS ID: 35717926 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43606753

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	V [Val] / V [Val]
coding-synonymous	NM_020975	NP_066124	3	V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGAACGGGGCAGGGCAGGGCTGGGGCAGGTGGGTGGGTATGAAGGCTCTGAGGGGTGGAGGACAGGGTGCTCGGGGGGGCTGCTGT
CTCCAGGCCCAGTTGGGGGCTGTTCCAGGACTTAGGCTGTGTGGGAATCTCTACCCTCAGGCCATTACAGGCCGGTCCAGCTGCCTGGCT
AAGGTGTTCCCCTGTGCCCCCCTAGATCGGGAAAGTCTGTGTGGAAAACTGCCAGGCGTTCAGTGGCATCAACGTCCAGTACAAGCTGCA
TTCCTCTGGTGCCAACTGCAGCACGCTAGGGGT A/G GTCACCTCAGCCGAGGACACCTCGGGGATCCTGTTTGTGAATGACACCAAGG
CCCTGCGGCGGCCCAAGTGTGCCGAACTTCACTACATGGTGGTGGCCACCGACCAGCAGACCTCTAGGCAGGCCCAGGCCCAGCTGCTTG
TAACAGTGGAGGGGTCATGTGAGTGCCTGCTCCAGGGAGGGAGGGTCGGGGTCCTGGGGGCTTCTGGAGCCTGGGCCTCCTGCCCTTTGA
GAAAAGCAGTACAGCTGCAAGGCTTAGCTGGGGAGTGGGGAAGGCATGGACCAGCTTCACCCTGAGTG-3'

[Top]

RS ID: 35118262 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
10	43600607

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	1	V [Val] / L [Leu]
missense	NM_020630	NP_065681	2	T [Thr] / N [Asn]
missense	NM_020975	NP_066124	2	T [Thr] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGCCCTTCCGCTGCGCCCCGGACAGCCTGGAGGTGAGCACGCGCTGGGCCCTGGACCGCGAGCAGCGGGAGAAGTACGAGCTGGT
GGCCGTGTGCACCGTGCACGCCGGCGCGCGCGAGGAGGTGGTGATGGTGCCCTTCCCGGTGACCGTGTACGACGAGGACGACTCGGCGCC
CACCTTCCCCGCGGGCGTCGACA A/C CGCCAGCGCCGTGGTGGAGTTCAAGCGGAAGGAGGTGCTTGTCCGCGCGTGCTGTGGTCTAC
CCAGTGTCTGTCTCCGGCCACAGTTCGTTTCTCGGTCGGTTTAGTGTCCGTGTAGCCACCCAACCGTGTGGCCGACCATTCGCGCTTTCA
TTTGTCCTTCGCCTCCGTCTGCGCCGTCTGTCCTAGGGGGAGGGGAAG-3'

[Top]

RS ID: 34682185 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43601830

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	XM_002342982	XP_002343023	2	T [Thr] / M [Met]
missense	NM_020630	NP_065681	1	V [Val] / M [Met]
missense	NM_020975	NP_066124	1	V [Val] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGACGGCCAGGCTGGCCAGTGACCCCGTGGGAACTTGAACCCAGGTCAGACTGTCCCCAGACCTGGCTCTGACAACACACATCTGG
TCCACCTATGGGCTGTGTGGGACGTGCAGCATTCTAAGGTCTCTGGTTTTGGGGGGTCTGAGGGGCCCATCTCGCCTGCACTGACCAACG
CCCTCTGCATCCTGCAGGACACC A/G TGGTGGCCACGCTGCGTGTCTTCGATGCAGACGTGGTACCTGCATCAGGGGAGCTGGTGAGG
CGGTACACAAGCACGCTGCTCCCCGGGGACACCTGGGCCCAGCAGACCTTCCGGGTGGAACACTGGCCCAACGAGACCTCGGTCCAGGCC
AACGGCAGCTTCGTGCGGGCGACCGTACATGACTATAGTAAGAGGGGC-3'

[Top]

RS ID: 34617196 Link_out

Alleles: A/C

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43615063

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	Y [Tyr] / S [Ser]
missense	NM_020975	NP_066124	2	Y [Tyr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCCCTTACTCATTGGGTGGCCGGGCCTGGGGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCA
CGCCCAGGGCCCCCTCTCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGA
GAGCCGCAAAGTGGGGCCTGGCT A/C CCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCA
CCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCAC
CCAGCCAGCCCCGGCCAGGCCACACCCTGACCCACCACGCCCCTGCCA-3'

[Top]

RS ID: 34288963 Link_out

Alleles: C/G

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
10	43612141

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	2	R [Arg] / T [Thr]
missense	NM_020975	NP_066124	2	R [Arg] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAAC
ATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGC
AACGGCCTTCCATCTGAAAGGCA C/G AGCAGGGTACACCACGGTGGCCGTGAAGATGCTGAAAGGTACCTGCCAGGCACAGGCACAGT
GCCCCTGGGGGAGTCTCCGGGGCGGGGGGCGGGTGAGGCCCCTCCTGCCCAGCATGGGACCCTGAAGAGCCCCCAATGCTGTTCTAGAGC
GGCTGCAGTTGGGGGACCCCTACCATGGGCCACTTGGGCCTAGAGAAG-3'

[Top]

RS ID: 17158558 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
10	43620335

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	R [Arg] / C [Cys]
missense	NM_020975	NP_066124	1	R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTGGAGCGCTGTGGTCTGCCTGGGCACCCAGGCAAGCAAGGACGGTGCAGGACAGACGTGTGATTGCCAAAGGTTCTTGTTTGTC
TGTCTCCACACCTAAAAGCCCTCAATCAATTCATTCTTCTTGAGAGTTTTAAGGACTGGCACTTCTCACTTAGCTGCCAGAGCAAGCATA
GTATCCAGTGAGCTGTTTACCAGTGTCTTTGCAAGGGAAGTAAAAATGAATCTCCCTTGGAGGGAAGGGAAGCTTGTAGGATTCTGGACC
ACAGCTCTGAGAGACCTGAGCACAGTGGCCCACGGGCTGGGATCCTGCAACAGGCCATGCCCCAGTCCCACGAGGCTCAGAGATGTCAGC
GATGCAGAAATAGCTTTGGAGTTGGAGACAGAGCACACTGGGCCCAGGGTACAGGGCAGGGTGCGATGGCTGTGGTGGGCTGTCCTTCTG
AGACCTGGCCCTGCTTGGATCATATTGGCCTGTCTGCTCTTCCCACCAGGTAC C/T GCCTGATGCTGCAATGCTGGAAGCAGGAGCCG
GACAAAAGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGTGAGTGCCTGGGTCCAATTCCCACAA
GCTGAAAGTGGCTTGGGGAGACTCCAGCCTCACCCCAGGGCAGTAGTTTTAGCCCTCAGAGTTCCCAGTGTGGGGCCACAGTGGGATTGT
GCAGAGAGAGAGAGTCATGCTCTCCCCTGCATGCAGACAGCAGATTGAACCCTTCTCAGGCCAGGCCGCTTGGGCTTCTTTTCAAGTCAT
GAAGAAACCAAGATTCTTGACATTTAGGAAAAGCTCTCTACAGACAGGCATGGGAGGAAAATATTCCAAAGCCAAAAAGAAATAGTTTTC
CATAATGGAAAATGAGAAAGTTGAGTTAAAGCAAGTGCCCAAAATTCAGATGCCCAGAGGGGGGTCCGGCTGGAGGAGGGCAGTGAGTAA
GGAGCAGTGGAGACTGTG-3'

[Top]

RS ID: 9282834 Link_out

Alleles: A/G

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
10	43606856

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	D [Asp] / N [Asn]
missense	NM_020975	NP_066124	1	D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGGGAAAGTCTGTGTGGAAAACTGCCAGGCATTCAGTGGCATCAACGTCCAGTACAAGCTGCATTCCTCTGGTGCCAACTGCAGCA
CGCTAGGGGTGGTCACCTCAGCCGAGGACACCTCGGGGATCCTGTTTGTGAATGACACCAAGGCCCTGCGGCGGCCCAAGTGTGCCGAAC
TTCACTACATGGTGGTGGCCACC A/G ACCAGCAGACCTCTAGGCAGGCCCAGGCCCAGCTGCTTGTAACAGTGGAGGGGTCATGTGAG
TGCCTGCTCCAGGGAGGGAGGGTCGGGGTCCTGGGGGCTTCTGGAGCCTGGGCCTCCTGCCCTTTGAGAAAAGCAGTACAGCTGCAAGGC
TTAGCTGGGGAGTGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACC-3'

[Top]

RS ID: 3123654 Link_out

Alleles: G/T

Validation:

By hap map

Details:

Chromosome	Reference Position
10	43596064

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	R [Arg] / R [Arg]
coding-synonymous	NM_020975	NP_066124	3	R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATGCCAAGCTTCAGTGTCAGCGGCTGTGATAAGGGCGGCTTGAGGAAGGGGTGGGGTGGGGCACGGGGTGGGTGTTGGGGCGGTT
CCCTTACTGCGGACACTGAGCTTCTCCCAGGAGCTATGGTCCAGGCTCCGGTTAAGGTAGAGGAGGCCGGTGTCCTCCTGGATGCAGATC
CAGTTGTTCTCATGCAGCCGTGT G/T CGGTACGTGCCGTAGAGATGCTGGCCCAGGCGGAAGCTGGGCACCTCCTCAGGGGCGTCCCG
CAGGGCATGGACGTACAGCAAGGGCGTGCCGGCCGCCTGGTCCACATACAGCTTCTCCCAGTAAGCATCCCTCGAGAAGTAGAGGCCCAA
TGCCACTGTGGGAAGTAGGGAAGTGAGTGAGGGATGGTGAGAATAAGG-3'

[Top]

RS ID: 3026760 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43610176

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	K [Lys] / E [Glu]
missense	NM_020975	NP_066124	1	K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCG
CCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCRGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTC
A/G AGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGAC
AGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTCT
GTGGGGTGGGACTRTGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCATCGGGCAGGG-3'

[Top]

RS ID: 3026759 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43610065

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020630	NP_065681	1	E [Glu] / K [Lys]
missense	NM_020975	NP_066124	1	E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGCCTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGC
CGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCC
CACAAGCCACCCATCTCCTCAGCT A/G AGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCRGTGCCCG
CCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCRAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCC
TGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGC
CTGTGTTCTGCCCCCATTTCCATAGGG-3'

[Top]

RS ID: 1800863 Link_out

Alleles: C/G

Validation:

By frequency
By submitter
By cluster

Details:

Chromosome	Reference Position
10	43615633

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	S [Ser] / S [Ser]
coding-synonymous	NM_020975	NP_066124	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCCACACCCTGACCCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCATGCCACACTCTAGCCCACCATGCCCC
TGCCATGGCATGCCATGCTATGGCTCACCACGCCCCTGCCATGTCACACCCTGACTCCACCACGCCCCTGCCATGCCACACCCCCGGCCC
AGGTCTCACCAGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGC
CTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGA
TTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTC C/G TACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCG
GGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGATACCGAAGATTAGTGGAGCTCTAAGCT
TTTTATAGCCCTCACCCCAAATCTTTCTGACCCTGGGTCCCCAAGGACCCAATTAGAACTCCGCTCAGCCTCTGCCATGTCCTTCTCCTC
CAGGGCCTCCAGGGCACCCCTCCCTGGCAGCATACTGACCCGAGGCCCTTGCCGCACTTTTCAGAGGCCACCTCATGCTGCGGAACTAAC
AGTCCTCTTCTGCAGAATAAAGGTCACCGTTCTGATATGACCTTAGCTCTTTTCTCAAAGAAGGGTGGGATGAAATTAGCAGGATCGT-3
'

[Top]

RS ID: 1800862 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43615094

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	S [Ser] / S [Ser]
coding-synonymous	NM_020975	NP_066124	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACCCTGCGGCCTCCCACCCCTGGCTCCTGGAAGACCCAAGCTGCCTGACCCGCACGCCCAGGGCCCCCTCTCTCCGCCCCCAGGC
CCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGC
AGTGGAGGCAGCCGCAACTCCAG C/T TCCCTGGACCACCCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCA
GATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGGTGCGTGCATATGGCTCTGCACCCAGCCAGCCCCGGCCAGGCCACACCCTGAC
CCACCACGCCCCTGCCACCCACACCCTGGCCTGCCACTCCCCCACCAT-3'

[Top]

RS ID: 1800861 Link_out

Alleles: A/C

Validation:

By cluster
By frequency
By submitter
By 2 hit 2 allele
By hap map

Details:

Chromosome	Reference Position
10	43613843

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	L [Leu] / L [Leu]
coding-synonymous	NM_020975	NP_066124	3	L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCGCGGGGCCCCTCTGATGGAAAGTGACCACTCAGCCCGTGGACTCAGCTAGACACAAGCTCCAGGCTGGGGCCTGAGCCAGGCTT
CCAGAAAGAGGGAGAACAGGAAACAGGGCAGGAGCAGTAGGGAAAGGGAGAAAGAGGGAGAACAGGGCTGTATGGAGCCCCCAGCCTGGG
TGCAGTGGCTGCCCACCTCACCCTGCAGCTGGCCTTACCATCCTGGCTGCAGGCCCCATACAATTTGATGACATGTGGGTGGTTGACCTG
CTTCAGGACGTTGAACTCTGACAGCAGGTCTCG A/C AGCTCACTCGGGGAGGCGTTCTCTGAAATGCAGCACAGAGCAGGTTGCAAAC
GATCGCTCCTGGAAGCCCCTTCCATGACCATACCAGGTCAGGATGGACCTGCATCGCCTTGCCCAAGTTCAGACAGAGAGGCCTGCAAAG
ACGATGCTGCTTGAGGCTTCTCCCAGCCTTTGGGATCAGTGGACAGGGGCCTCATCCACCCTGAGGAAGAAGCACCCTGAGGAGCCAGCA
ACCACACATGCCGGATCTTTCCCCAGAGTGTCCCAGGGCTGGGCCACCTGTGTATGTGGCATTATGTT-3'

[Top]

RS ID: 1800860 Link_out

Alleles: A/G

Validation:

By cluster
By frequency
By submitter
By 2 hit 2 allele
By hap map

Details:

Chromosome	Reference Position
10	43606687

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	A [Ala] / A [Ala]
coding-synonymous	NM_020975	NP_066124	3	A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGCCCTGGGTTGCCTTGACCTCCAGCTCCCAGGAACAGGGGCAGCTGGTAACATGTGGCCTGAGTGGAACGGGGCAGGGCAGGGC
TGGGGCAGGTGGGTGGGTATGAAGGCTCTGAGGGGTGGAGGACAGGGTGCTCGGGGGGGCTGCTGTCTCCAGGCCCAGTTGGGGGCTGTT
CCAGGACTTAGGCTGTGTGGGAATCTCTACCCTCAGGCCATTACAGGCCGGTCCAGCTGCCTGGCTAAGGTGTTCCCCTGTGCCCCCCTA
GATCGGGAAAGTCTGTGTGGAAAACTGCCAGGC A/G TTCAGTGGCATCAACGTCCAGTACAAGCTGCATTCCTCTGGTGCCAACTGCA
GCACGCTAGGGGTGGTCACCTCAGCCGAGGACACCTCGGGGATCCTGTTTGTGAATGACACCAAGGCCCTGCGGCGGCCCAAGTGTGCCG
AACTTCACTACATGGTGGTGGCCACCGACCAGCAGACCTCTAGGCAGGCCCAGGCCCAGCTGCTTGTAACAGTGGAGGGGTCATGTGAGT
GCCTGCTCCAGGGAGGGAGGGTCGGGGTCCTGGGGGCTTCTGGAGCCTGGGCCTCCTGCCCTTTGAGA-3'

[Top]

RS ID: 1800859 Link_out

Alleles: A/C

Validation:

By cluster

Details:

Chromosome	Reference Position
10	43597827

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	V [Val] / V [Val]
coding-synonymous	NM_020975	NP_066124	3	V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGGTAAGGAGGTGGCAGGCAGAGCTGGAACACCAGTCTGAGCCTTGTGGACCTTGGTGGGGACCAGGGTTTACACCAGCCCTGGA
GCTCCTGCCTCCTCCCCATTCCCGACTGCCTGGCAGATGTGGCCGATGCCCCCACAGACCTGACTTCTCTCTGCAGACCGCGGCTTTCCC
CTGCTCACCGTCTACCTCAAGGT A/C TTCCTGTCACCCACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTGCCCGCGTATA
CTTCTCCTTCTTCAACACCTCCTTTCCAGCCTGCAGCTCCCTCAAGCCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCAT
TCGGGAGAACCGACCCCCAGGCACCTTCCACCAGTTCCGCCTGCTGCC-3'

[Top]

RS ID: 1800858 Link_out

Alleles: A/G

Validation:

By cluster
By frequency
By submitter
By 2 hit 2 allele

Details:

Chromosome	Reference Position
10	43595968

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_020630	NP_065681	3	A [Ala] / A [Ala]
coding-synonymous	NM_020975	NP_066124	3	A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGAGTGGAATTGCAGGGTCATATGGTAGGCGTATGTTTAGATAAAGATTTATGACTTTCCTGTAAAGTGCTTTCTTCATTTTTTGG
CAACTGTTGCCTGCCCCACATGGGTGGCAGTGTCTCCTGCCCTTGAACACTCTGGCTCTGGGTGACCTGTTGAGAAGTCTGTATGGTTCA
GGTGCCCTTCCGGCTTGGATGATTGAGAATAGGCTTGTCACTGAGGATACTGCTTCCCCTGTTTCCTTTTCTTTTTCTGTTTTAAAGCAG
TTCTTTTCTAGCCCGTGTGTAACTATACAAATAATTGAGTGTTCATGTTCTCAGGAACAGAGATGAAAAACTCCTGCTAAGATCGGAATT
TTAAATTAATGATTTTTTTTTTTTTTGTCCTTGAAGAAGCCTTATTCTCACCATCCCTCACTCACTTCCCTACTTCCCACAGTGGCATTG
GGCCTCTACTTCTCGAGGGATGCTTACTGGGAGAAGCTGTATGTGGACCAGGC A/G GCCGGCACGCCCTTGCTGTACGTCCATGCCCT
GCGGGACGCCCCTGAGGAGGTGCCCAGCTTCCGCCTGGGCCAGCATCTCTACGGCACGTACCGCACACGGCTGCATGAGAACAACTGGAT
CTGCATCCAGGAGGACACCGGCCTCCTCTACCTTAACCGGAGCCTGGACCATAGCTCCTGGGAGAAGCTCAGTGTCCGCAGTAAGGGAGC
CGCCCCAACACCCACCCCGTGCCCCACCCCACCCCTTCCTCAAGCCGCCCTTATCACAGCCGCTGACACTGAAGCTTGGCATGGCTTCCC
CCCCACCGCTGGTGTGGAAGGCGTCAGGGGTTAAGTGAGGCTGGCCTGCCTCTGTGTCCAGCCTGGAGAGAAGCCAGGACAAGCTTCAGG
GCTGCGTGAGGCTGTAGGAGTTTGGAGACACACGGGAATCATCCGGGTACACTCTTCTGCCAGACCCGAATCCCTCTTCCAGTGGGGCTA
AAAAGGATTAGGAGGTTT-3'

[Top]

RS ID: 1799939 Link_out

Alleles: A/G

Validation:

By frequency
By submitter
By cluster

Details:

Chromosome	Reference Position
10	43610119

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_020975	NP_066124	1	G [Gly] / S [Ser]
missense	NM_020630	NP_065681	1	G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCGCGGACACGGCAGGCTGGAGAGCCATGAGGCAGAGCATACGCAGCCTGTACCCAGTGGTGCCGAGCCTCTGGCGGTGCCAAGC
CTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCG
GTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCC
GCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCC A/G GTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGC
CTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGA
CAGAGGCCATCCTGTGAGGGGCTGCCAACGCTGGGCAGACGAGGCCTGTGTTCTGCCCCCATTTCCATAGGGCGCTGTGTGGGGACAGTC
TGTGGGGTGGGACTATGATGAGGTGCCGTTCCCATCTAGGTGAGAGGCAGTGGTCAGGGTCACAGCAT-3'

SNPJam Report for RET