SNPJam Report for CTSD

Showing coding SNPs for CTSD (Gene ID: 1509)

Show all SNPs for this gene at dbSNP

This SNP viewer is in beta and your feedback is appreciated!

This SNPJam view is a snapshot of the information available at dbSNP and HapMap. It has been reformated to include the information most relevant to drug and metabolomics research.

Please note that population frequency data is updated on a nightly basis and may not be present if this gene was recently annotated.

Show all non-coding SNPs

[Top]

RS ID: 117301951 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780753

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 I [Ile] / I [Ile]
missense XM_002343068 Link_out XP_002343109 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCTGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGGGCTGGCCTGGCTCACGGGG
CCAAGAGGCAGGAGAATTGCGTTGCCCAAGTGATTCCTGAGGCAGCCCTGCAGCGACATCCCGGAAGGGCAGGACCTGGGCGACGGGGCC
AGGGTTCGTGACTCACAGCAAGC A/G ATGTCCAGCAGTTTGCAGTGGATGGAGGGGACCCACAGGTTGGAGGAGCCCGTGTCGAAGAC
GACTGTGAAGCACTGGGGGGGCGTCCCGATGCCAATCTCCCCGTAGTACTGGGCCTGGCAGGGGACAGGGTCCGTCAGGGATGGGAGAGG
GGGCCCCATCTCCCCACTGGGCCTCAGAAGGCCCGGCTGTCCCCAGAG-3'

[Top]

RS ID: 116153088 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778725

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001909 Link_out NP_001900 Link_out 2 V [Val] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAGAAGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGT
CGAAGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTG
GCTGCTTGGTGGCCTCCCCAAAG A/C CCTGCCTCTCCACTTTGACACCGCCCAGGGCAGAGGCTGACGACGCTGACTGGCAGGGCACC
TGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGAT
GCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTG-3'

[Top]

RS ID: 115786275 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778371

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGA
CCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGG
CCAAACAGCTTTCTCTGTGCTGC C/T GCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTC
AGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAA
CGCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAG-3'

[Top]

RS ID: 115127652 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778094

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 G [Gly] / G [Gly]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTG
GGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAG
AGCTGCTCGCAGCGTGGTGCCGG A/G GACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCT
CTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCC
ACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCC-3'

[Top]

RS ID: 114444849 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1779268

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 H [His] / H [His]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCGACCTCTTACTCCCACCACCAATGACAGGCAGGTCCTGCTCCTGCCCTCAGCGCTGGGAACAAGACACAGCCTGGGCCAGGAGC
CCGAGAGATGGGGAACCTGCCGACCCCATCCCAAGCTCACAGCCATACTGCCCCCTTCCCCTTCTCTGCCTGTCCCCTCCCCCAGCCCTG
GATGAGGCTGCAGAGAGAGAACA C/T GGCCAGAGCAGGATGTGGGAAGGGAACGACAGCTTGAGGCTGACACGGGGCGGAGGGGGCAG
AAGAGGGCGGAAGAGGGCAGACGGGGCAATTTCCTGTTCAGGCTGAGCAGGGTCCAGACAGGAGGGCTCTGAGGAGCCCCCAGTACAGAC
TGGACTCCAGCCCAGCAGGGAACTGTTAGGAGCAGCTTCAGCTGGAGG-3'

[Top]

RS ID: 114112241 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778147

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 2 T [Thr] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTC
CTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATACGCACCCAAGGTCACCTCCCC
GGGGATCCCCGGTCCCCTGGGCA A/C CATGACCCTCTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCT
GGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGT
CCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGG-3'

[Top]

RS ID: 114051835 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1782578

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 T [Thr] / T [Thr]
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGGGAAGAAAGGAGTGTGGCTGAGCCGGGACGCCACCGTGGCCAGGTGAGCCACTCAAACTGCGCTGCTGAGAACAGGAGGTGGG
AATGTTCCCCATACTGCCACGGAGCTCTCCTGACAGTGGCTCCGCTTGCAGCAGGGCTAAGACCTCATACTCACGTCCATGTAGTTCTTG
AGCACCTCGGGAATGGGCCCCTC A/G GTCACGGCTGGCACCGCCTGGGAGTACTTTGAGACGGGGCCTTTGGCAATCAGGTCCTCCAC
AGAGCCCCCAACCTCCGACATGGTCCGGCGGATGGACGTGAACTTGTGCAGCGGGATCCTGTCAACCACGGGTCGGGGCATATCAGGGAG
GCCCTCCCGCCTGCCGGCCGACGCTGCCAATGCTGCACATCCACCTGG-3'

[Top]

RS ID: 113831578 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1779764

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 1 L [Leu] / L [Leu]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCATCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGA
CAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAAGGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGG
CCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGCTGCTCCCCCTCCCTTGCCCTCCCAGGCTC C/T TGCCGGTGACTC
TCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAACCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCA
GCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAATGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACT
CATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGGGTTTGAGGCTGTCC-3'

[Top]

RS ID: 113641298 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1776114

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGAGGGATGGAGGGATAGAGGGAATAGAGGGGATGGAGGTGATGGGGAGCATGGAGGGGCAAGGAGGGGCATGGAGGGCTGGTCTG
ACCCCATCTCTTTCTTGCCCAGCTCCCACTACTCCCCACATGCAACCCCCACCTGCAGAACCGGGGTCCTCCAGGGTCTCCGCACACCGC
CCCCGCCCACAGAACCCAGGGGA A/G CCGACTGCAGCCACTACTCACTGGTCCAGGTGGACCTGCCAGTAGGCCTTGCGGGTGACATT
CAGGTAGGACAGAGAACCCTTGTAATACTTGGAGTCTGTGCCACCCAGCATCAGCTCACCCCCAGGCTGCGCATCTGGGTCCCTAGGAGG
AAAAGGGAGGAGTCAGCTGCCACGCCACCCCCCAAGCACAAGAGTGCC-3'

[Top]

RS ID: 113444155 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778552

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 P [Pro] / P [Pro]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAG
CTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGG
AGCGAGAGGGAACCCACACGCCC A/T CCTGCTCAGGTAGAAGGAGAAGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGTCGA
AGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTGGCT
GCTTGGTGGCCTCCCCAAAGACCTGCCTCTCCACTTTGACACCGCCCA-3'

[Top]

RS ID: 113137893 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1777958

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 2 K [Lys] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGAGAGTGTGGGGCAGTGACCAGGCGCAGCTCAGGGCAGGAGGCCGCCGGCTGACACGCTGCCCACCCCCAAAACAAAAGCCCCC
AACCCCCAGTCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAG
GTCACCTGACCATGGGTCACCCA A/T GCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCC
CCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATACGCACCCA
AGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCT-3'

[Top]

RS ID: 112021026 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1775350

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 G [Gly] / G [Gly]
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCACCTCGCCCTGAATC
AGCGGCACGGCCCCGATGGCCTTCTGCAGCTCGCGCACCTCATCCACCGGGCCCACCATGAGGGAAGTGCCTGTGTCCACAATGGCCTCA
CAGCCCTCCTTGCACAGGGTCAG C/T CCGCTGGCCACCTCCACCCTGCGGGGAGTCAGGGCGTGAAGCCCCTGCCGGGACTGGAGTGT
GCCCTGGGGGCCCAGTGCCCCTCCCTGGGAGCCCCTCCCCTGGCTGGGCTGCACTCTCCTCCCCTCAGGGCTCCTGGAAGCACAGCCGGC
TGTAAGCCCTCCAGGGAAGAGGGTGGGAGAGGAGACACAGAGTGGTAG-3'

[Top]

RS ID: 111965770 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780870

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 L [Leu] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGACGACTGTGAAGCACTGGGGGGGCGTCCCGATGCCAATCTCCCCGTAGTACTGGGC C/G TGGCAGGGGACAGGGTCCGTCA
GGGATGGGAGAGGGGGCCCCATCTCCCCACTGGGCCTC-3'

[Top]

RS ID: 111849172 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1775081

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 K [Lys] / K [Lys]
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCTTCCCGGCCTGCGACACCTGGGACGGCCCTGGTGGTCAGTACCCAGGCCTAGCACCACCCGCCCCCCCACCTGTTGCCCGCTCA
CCTGGAGCGTGCGCCCCCTCACCGCCCGCTCACCTGGGGCGTGCGGCACCCCATTGCCCGCTCACCTTGAGCGTGTAGTCCTCTGGGGAC
AGCTTGTAGCCTTTGCCTCCCAG C/T TTCAGTGTGATCGCGGGCAGGGTGGACACCTTCTCACAGGGGATCATGTACTAAGAGGGGTC
ACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCACCTCGCCCTGA
ATCAGCGGCACGGCCCCGATGGCCTTCTGCAGCTCGCGCACCTCATCC-3'

[Top]

RS ID: 111444735 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1776095

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 P [Pro] / P [Pro]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACAGAGGCATGGAGGAAATGGAGGGATGGAGGGATAGAGGGAATAGAGGGGATGGAGGTGATGGGGAGCATGGAGGGGCAAGGAGG
GGCATGGAGGGCTGGTCTGACCCCATCTCTTTCTTGCCCAGCTCCCACTACTCCCCACATGCAACCCCCACCTGCAGAACCGGGGTCCTC
CAGGGTCTCCGCACACCGCCCCC A/G CCCACAGAACCCAGGGGAGCCGACTGCAGCCACTACTCACTGGTCCAGGTGGACCTGCCAGT
AGGCCTTGCGGGTGACATTCAGGTAGGACAGAGAACCCTTGTAATACTTGGAGTCTGTGCCACCCAGCATCAGCTCACCCCCAGGCTGCG
CATCTGGGTCCCTAGGAGGAAAAGGGAGGAGTCAGCTGCCACGCCACC-3'

[Top]

RS ID: 80342185 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778079

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 S [Ser] / S [Ser]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAAACAAAAGCCCCCAACCCCCAGTCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGT
CCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTC
CCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTC A/G CAGCGTGGTGCC
GGGGACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCACCATCAGCAACCCCGGGACC
AGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCT
CATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCT-3'

[Top]

RS ID: 78306946 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1775245

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 A [Ala] / A [Ala]
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCCTCTGGGGACAGCTTGTAGCCTTTGCCTCCCAGCTTCAGTGTGATCGCGGGCAGGGTGGACACCTTCTCACAGGGGATCATGTA
CTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTC
ACCTCGCCCTGAATCAGCGGCAC A/G GCCCCGATGGCCTTCTGCAGCTCGCGCACCTCATCCACCGGGCCCACCATGAGGGAAGTGCC
TGTGTCCACAATGGCCTCACAGCCCTCCTTGCACAGGGTCAGCCCGCTGGCCACCTCCACCCTGCGGGGAGTCAGGGCGTGAAGCCCCTG
CCGGGACTGGAGTGTGCCCTGGGGGCCCAGTGCCCCTCCCTGGGAGCC-3'

[Top]

RS ID: 71812486 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780870

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 LAGDRF / AGDRF

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCAGAGCCCCGGGACTGTGGGCTGTGACCCCGGGCCTCCCTCCCAGCCACAGCCGGCTCCCTCTGTGGCCACCCCAGCCCCAGCCC
TGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGGGCTGGCCTGGCTCACGGGGCCAAGAG
GCAGGAGAATTGCGTTGCCCAAGTGATTCCTGAGGCAGCCCTGCAGCGACATCCCGGAAGGGCAGGACCTGGGCGACGGGGCCAGGGTTC
GTGACTCACAGCAAGCGATGTCCAGCAGTTTGCAGTGGATGGAGGGGACCCACAGGTTGGAGGAGCCCGTGTCGAAGACGACTGTGAAGC
ACTGGGGGGGCGTCCCGATGCCAATCTCCCCGTAGTACTGGGC (LARGEDELETION)/- GTCCATGTAGTTCTTGAGCACCTCGGGA
ATGGGCCCCTCGGTCACGGCTGGCACCGCCTGGGAGTACTTTGAGACGGGGCCTTTGGCAATCAGGTCCTCCACAGAGCCCCCAACCTCC
GACATGGTCCGGCGGATGGACGTGAACTTGTGCAGCGGGATCCTGTCAACCACGGGTCGGGGCATATCAGGGAGGCCCTCCCGCCTGCCG
GCCGACGCTGCCAATGCTGCACATCCACCTGGAGGCCCCTGGGGAATCTCAGAGTCGCCACAGCCAAAACCAAACTCCTGCCTGTCACCT
GGAAACTGCTGGCCCAGCTCCCCCAAGTCAGTGAATGGCAACCCATTGCCCCCCGCCAGGTTGCACAGGCCACAGTCCTAAGAAGTGGTC
ACCCGCCACCC-3'

[Top]

RS ID: 61869049 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1777969

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAAGTGAGCCACGTGAGGTAAACCTGCCCCTGTCAGCCCTGGAGAGTGTGGGGCAGTGACCAGGCGCAGCTCAGGGCAGGAGGCCG
CCGGCTGACACGCTGCCCACCCCCAAAACAAAAGCCCCCAACCCCCAGTCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGA
GAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAG C/T GGCTGCAGGTGG
GGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGA
GCTGCTCGCAGCGTGGTGCCGGGGACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCA
CCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGAC-3'

[Top]

RS ID: 55877559 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778176

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAG
GAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATA
CGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCACCATCAGCAACCCC A/G GGACCAGGACCA
CATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGA
GGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCT
GCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTC-3'

[Top]

RS ID: 55797351 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778104

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACC
TGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTC
CTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATAC A/G CACCCAAGGTCA
CCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGG
TCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAA
GGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACA-3'

[Top]

RS ID: 35855065 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1782617

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001909 Link_out NP_001900 Link_out 2 G [Gly] / A [Ala]
frameshift XM_002343068 Link_out XP_002343109 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGGCCCTAGCAGGACCAAGACCCTGCAATGACAGGGGCCAGTGGCAGGAGGTTCCAGAATGGGGAAGAAAGGAGTGTGGCTGAGC
CGGGACGCCACCGTGGCCAGGTGAGCCACTCAAACTGCGCTGCTGAGAACAGGAGGTGGGAATGTTCCCCATACTGCCACGGAGCTCTCC
TGACAGTGGCTCCGCTTGCAGCAGGGCTAAGACCTCATACTCACGTCCATGTAGTTCTTGAGCACCTCGGGAATGGGCCCCTCGGTCACG
GCTGGCACCGCCTGGGAGTACTTTGAGACGGGG -/G CCTTTGGCAATCAGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC
GGATGGACGTGAACTTGTGCAGCGGGATCCTGTCAACCACGGGTCGGGGCATATCAGGGAGGCCCTCCCGCCTGCCGGCCGACGCTGCCA
ATGCTGCACATCCACCTGGAGGCCCCTGGGGAATCTCAGAGTCGCCACAGCCAAAACCAAACTCCTGCCTGTCACCTGGAAACTGCTGGC
CCAGCTCCCCCAAGTCAGTGAATGGCAACCCATTGCCCCCCGCCAGGTTGCACAGGCCACAGTCCTAA-3'

[Top]

RS ID: 35640004 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1779768

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable
missense XM_002343068 Link_out XP_002343109 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGGGGCCCTCTTCCCGGGTCCCTGGGCCTGCAGGGGGGCTCTGCTGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCA
TCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGACAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAA
GGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGGCCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGC
TGCTCCCCCTCCCTTGCCCTCCCAGGCTCCTGC A/C GGTGACTCTCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAA
CCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCAGCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAA
TGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACTCATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGG
GTTTGAGGCTGTCCCTCCAGCCTGCACACAACCAGGCCCATTCCCAGACCCCTCCTCACCCTGCTGAC-3'

[Top]

RS ID: 12786025 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
11 1778091

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 A [Ala] / A [Ala]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGCAGGAGGCCGCCGGCTGACACGCTGCCCACCCCCAAAACAAAAGCCCCCAACCCCCAGTCACCCCTCTTATGTGGAACCCTC
CACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCA
GCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTG
GGGACGCCCACAGAGCTGCTCGCAGCGTGGTGC C/T GGGGACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGG
GCACCATGACCCTCTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACC
AAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGA
GCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGG-3'

[Top]

RS ID: 11555048 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
11 1780847

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001909 Link_out NP_001900 Link_out 2 G [Gly] / V [Val]
missense XM_002343068 Link_out XP_002343109 Link_out 2 A [Ala] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCGAGGTGCTCAAGAACTACATGGACGCCCAGTACTACGGGGAGATTG G/T CATCGGGACGCCCCCCCAGTGCTTCACAGTCG
TCTTCGACACGGGCTCCT-3'

[Top]

RS ID: 11555047 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780870

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 D [Asp] / D [Asp]
frameshift XM_002343068 Link_out XP_002343109 Link_out 1 LAGDRF / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGCCGTGACCGAGGGGCCCATTCCCGAGGTGCTCAAGAACTACATGGA C/T GCCCAGTACTACGGGGAGATTGGCATCGGGAC
GCCCCCCCAGTGCTTCAC-3'

[Top]

RS ID: 11555046 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1785060

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 A [Ala] / A [Ala]
missense XM_002343068 Link_out XP_002343109 Link_out 3 R [Arg] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCGACCCGGCCGCCGCCGCCATGCAGCCCTCCAGCCTTCTGCCGCTCGC A/C CTCTGCCTGCTGGCTGCACCCGCCTCCGCGCT
CGTCAGGATCCCGCTGCA-3'

[Top]

RS ID: 11555045 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778721

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001909 Link_out NP_001900 Link_out 3 F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGTCGTCAGCCTCTGCCCTGGGCGGTGTCAAAGTGGAGAGGCAGGTCTT G/T GGGGAGGCCACCAAGCAGCCAGGCATCACCTT
CATCGCAGCCAAGTTCGA-3'

[Top]

RS ID: 11555044 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1782564

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001909 Link_out NP_001900 Link_out 2 P [Pro] / L [Leu]
missense XM_002343068 Link_out XP_002343109 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGTCTCAAAGTACTCCCAGGCGGTGCCAGCCGTGACCGAGGGGCCCATTC C/T CGAGGTGCTCAAGAACTACATGGACGCCCAGT
ACTACGGGGAGATTGGCA-3'

[Top]

RS ID: 11555043 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780263

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001909 Link_out NP_001900 Link_out 2 T [Thr] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACCACAAGTACAACAGCGACAAGTCCAGCACCTACGTGAAGAATGGTA C/T CTCGTTTGACATCCACTATGGCTCGGGCAGCC
TCTCCGGGTACCTGAGCC-3'

[Top]

RS ID: 11555042 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780806

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 R [Arg] / R [Arg]
missense NM_001909 Link_out NP_001900 Link_out 1 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGAGATTGGCATCGGGACGCCCCCCCAGTGCTTCACAGTCGTCTTCGAC A/T CGGGCTCCTCCAACCTGTGGGTCCCCTCCATC
CACTGCAAACTGCTGGAC-3'

[Top]

RS ID: 11555040 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1774790

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 Y [Tyr] / Y [Tyr]
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCAGCGGGCCACTCTGGATCCTGGGCGACGTCTTCATCGGCCGCTACTA C/T ACTGTGTTTGACCGTGACAACAACAGGGTGGG
CTTCGCCGAGGCTGCCCG-3'

[Top]

RS ID: 11555039 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780205

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 T [Thr] / T [Thr]
intron XM_002343068 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGATCCCCTCCAAATCCCACCCTGGGGAGGCAGCTTGGGGGGTGCGGGCTCCATGGTAGATTGTAGGGGGATGGGAGGGCTAAGGC
CGTGGCGTGGGCTGCGGGATGACCGGCGGGCCCCCTTGTCGCCCGGGGCAGGGATCCACCACAAGTACAACAGCGACAAGTCCAGCACCT
ACGTGAAGAATGGTACCTCGTTTGACATCCACTATGGCTCGGGCAGCCTCTCCGGGTACCTGAGCCAGGACAC C/T GTGTCGGTGAGT
CCCTCTGGGGCCTTTCCCAGGACTCGAGGGTGCCAGGGTGTGGGGTTCACCCACCGTGGGTATGTGGTTGAAAGGGAGGGCTCGGTGATC
CCAGCCCAACCCCAGCCCTCAGGTGGCCGGGGCAGTCAGCAGGGTGAGGAGGGGTCTGGGAATGGGCCTGGTTGTGTGCAGGCTGGAGGG
ACAGCCTCAAACCCAGGGGGTACAGGGGCAGGGGTCCCCGGAGTCAGGCCACAATGAG-3'

[Top]

RS ID: 2292962 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1778321

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002343068 Link_out XP_002343109 Link_out 3 P [Pro] / P [Pro]
intron NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCCTTCTACCTGAGCAGGTGGGCGTGTGGGTTCCCTCTCGCTCCGCGTTGCTGGGAGGCAGGGCGGGGCTGGACGGGGAGCCTTCT
AGGCACCCCCTCTCAGTGCTGCCCCCTCCCTGCTGCTGTGCCAGAGCTCCTGACCTCTGACCTCAGGGCATCCGGGAGGCGGGGGTTGGC
CGCCCTTCTGCAGAGGAGTAAGCGGCAGCACAGAGAAAGCTGTTTGGCCGGGGTCTCCCAGTGGGAGGGGCTC A/G GGCCAGGCTGTG
GGTCCTGGGACCTTGGCAGCTGGGCCTCCCTCCTATGAGAATGGACCCAGGTCAGGGGTCGTGGCAGTTCCTCTTGGTTCAGTCGGCCCG
TCGGTCCCCAGACCTGGTGATGGGCACATGTGGTCCTGGTCCCGGGGTTGCTGATGGTGGAGAGGGTCATGGTGCCCAGGGGACCGGGGA
TCCCCGGGGAGGTGACCTTGGGTGCGTATGGGTCCCCGGCACCACGCTGCGAGCAGCT-3'

[Top]

RS ID: 2230067 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1780867

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 A [Ala] / A [Ala]
missense XM_002343068 Link_out XP_002343109 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAGGTGACAGAAGCCAGGGGTCTAGAGACCCCAAGTACCCGTGGGCATTAGGACCGAGGGCTGGGGACCTGGCCCATCTTCCCTGC
AGGCTGAGCAGGTGGGAGTGGGTGGCTGTTGGCAGCTGTGGGCCCCGTGATGCCCCTCCCTCCAGTATGGGCCTTGGCTCTGGGGACAGC
CGGGCCTTCTGAGGCCCAGTGGGGAGATGGGGCCCCCTCTCCCATCCCTGACGGACCCTGTCCCCTGCCAGGC C/T CAGTACTACGGG
GAGATTGGCATCGGGACGCCCCCCCAGTGCTTCACAGTCGTCTTCGACACGGGCTCCTCCAACCTGTGGGTCCCCTCCATCCACTGCAAA
CTGCTGGACATCGCTTGCTGTGAGTCACGAACCCTGGCCCCGTCGCCCAGGTCCTGCCCTTCCGGGATGTCGCTGCAGGGCTGCCTCAGG
AATCACTTGGGCAACGCAATTCTCCTGCCTCTTGGCCCCGTGAGCCAGGCCAGCCCTC-3'

[Top]

RS ID: 1320294 Link_out

Alleles: C/T

Validation:

  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
11 1778673

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001909 Link_out NP_001900 Link_out 3 F [Phe] / F [Phe]
missense XM_002343068 Link_out XP_002343109 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATTGAACTGGGTTTTGTAGCCTCATGCTCAGGGAGTGGTGTAGGGCTCAGCCTGTCTGCTGCCCACTGACTCTGCCCTGGCCTGC
AGGTGCCCTGCCAGTCAGCGTCGTCAGCCTCTGCCCTGGGCGGTGTCAAAGTGGAGAGGCAGGTCTTTGGGGAGGCCACCAAGCAGCCAG
GCATCACCTTCATCGCAGCCAAGTT C/T GATGGCATCCTGGGCATGGCCTACCCCCGCATCTCCGTCAACAACGTGCTGCCCGTCTTC
GACAACCTGATGCAGCAGAAGCTGGTGGACCAGAACATCTTCTCCTTCTACCTGAGCAGGTGGGCGTGTGGGTTCCCTCTCGCTCCGCGT
TGCTGGGAGGCAGGGCGGGGCTGGACGGGGAGCCTTCTAGGCACCCCCTCTCAGTGCTGCCCCCTCCCTGCTGCTGTGCCAGAGCTCCTG
ACCTCTGACCTCAGGGCATCCGGGAGGCGGGGGTTGGCCGCCCTTCTGCAGAGGAGTAAGCGGCAGCACAGAGAAAGCTGTTTGGCCGGG
GTCTCCCAGTGGGAGGGGCTCGGGCCAGGCTGTGGGTCCTGGGACCTTG-3'

[Top]

RS ID: 698451 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1774219

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense XM_002343068 Link_out XP_002343109 Link_out 2 S [Ser] / F [Phe]
utr-3 NM_001909 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCACCCTACCTGTTCAGTGTCCCGGGCCCGTTGAGGATGAGGCCGCTA A/G AGGCCTGAGGATGAGCTGGAAGGAGTGAGAGG
GGACAAAACCCACCTTGT-3'

[Top]

RS ID: 17571 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
11 1782594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001909 Link_out NP_001900 Link_out 2 A [Ala] / V [Val]
missense XM_002343068 Link_out XP_002343109 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTTTCCAGGTGACAGGCAGGAGTTTGGTTTTGGCTGTGGCGACTCTGAGATTCCCCAGGGGCCTCCAGGTGGATGTGCAGCATTG
GCAGCGTCGGCCGGCAGGCGGGAGGGCCTCCCTGATATGCCCCGACCCGTGGTTGACAGGATCCCGCTGCACAAGTTCACGTCCATCCGC
CGGACCATGTCGGAGGTTGGGGGCTCTGTGGAGGACCTGATTGCCAAAGGCCCCGTCTCAAAGTACTCCCAGG C/T GGTGCCAGCCGT
GACCGAGGGGCCCATTCCCGAGGTGCTCAAGAACTACATGGACGTGAGTATGAGGTCTTAGCCCTGCTGCAAGCGGAGCCACTGTCAGGA
GAGCTCCGTGGCAGTATGGGGAACATTCCCACCTCCTGTTCTCAGCAGCGCAGTTTGAGTGGCTCACCTGGCCACGGTGGCGTCCCGGCT
CAGCCACACTCCTTTCTTCCCCATTCTGGAACCTCCTGCCACTGGCCCCTGTCATTGC-3'