SNPJam: show

[Top]

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075825

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	H [His] / H [His]
coding-synonymous	NM_021096	NP_066919	3	H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCAGAGAACCAACCGGGAGGGCAGCTGTGTCCTGCCCACCCCACAGCCCCGGGACCCGGCTGATAATCCCGCCTGTCCCCACCCCG
TCCCCGTCCGCCTAGGAGAACCTGTGGCTGGACAGCGTCTCTTTAATCATCAAGGACTCCTTGGAGGGGGAGCTGACCATCATCGACAAC
CTGTCGGGCTCCATCTTCCACCA C/T TACTCCTCGCCTGCCGGCTGCAAGAAGTGTCACCACGACAAGCAAGAGGTAATGGCAGCCCG
GGAGGCCTGGCCCCTTGTGGCAGGGGCAGCACGAAACCTGGTGGGGGGCCTGTCCGAGGGCAGAGCCTGGCTCTGGGCTGTAGAGACCAG
GCTGGGTCAACGTGGGCACACGTAGCTTCCATGGCTGGGGCAGATTGG-3'

[Top]

RS ID: 76019063 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	39966952

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	T [Thr] / T [Thr]
coding-synonymous	NM_021096	NP_066919	3	T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGACATGGCTGAGAGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCACCACGGAGCAGCCCGGA
CCCCGGAGCCCCCCATCCTCCCCGCCAGGCCTGGAGGAGCCTCTGGATGGAGCTGATCCTCATGTCCCACACCCAGACCTGGCGCCTATT
GCCTTCTTCTGCCTGCGACAGAC C/T ACCAGCCCCCGGAACTGGTGCATCAAGATGGTGTGCAACCCATATCCTCCGCAGCCTCGGCT
GATCGGGGCCCTGCAGGGGCTGAAGGGTGGGGGGCTGGATTGAGTCCTGCTGCTCACACCTTGCTCCGGCTGGGAGACCTGAGGTCTGCG
GTGAGGCCACTGGGCCTTGGTGGTGGTGAGCGAGCTCAGAGGGTGGGT-3'

[Top]

RS ID: 76007562 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40066114

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	V [Val] / V [Val]
coding-synonymous	NM_021096	NP_066919	3	V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCACAGCCACCTTCCTGGAGGCAGGCTCAACACATGCCCACTCCATGGAGGCTCAGCCAGGATGGGCACCTCCCCATGGCCCTGTA
GGGCCCAATCAGCCTCCTCAGCCCTTTCTGACTCCCCTGCAGCCTGTGACCAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTC
CTGCTCATCGTCAGCTTCTTTGT G/T CTCAACATGTTTGTGGGTGTCGTGGTGGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGC
TGAAGAGGCACGGCGGCGTGAGGAGAAGCGGCTGCGGCGCCTGGAGAAGAAGCGCCGGAGTGAGTGGGTGCCTGTGGAGGGCGTGGGCCA
CCCAGCTCTAAGCCCTTCTGCCTGGGCCTGACCCCAGCCTCCTGAGCC-3'

[Top]

RS ID: 61708088 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40056354

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	D [Asp] / D [Asp]
coding-synonymous	NM_021096	NP_066919	3	D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATCCCCCAAGATTAGGGACTCTGGGCCCTGCTCCCTCCGTTCTCTGAGGCTCTGGGGATACTTGCAGTCAGGCAGATGTAGGGTTG
TGACCTAGGTTCTTGTTAGCATCTCATTTCCCTTTTCCAAACCTCAGTTTTCCCATTTGCAAAATGGCGGTGGAAACACCCATAGAAAAA
TTCTAGAGGGAGCTGGGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGA C/T GCCAATCGCTCC
TACTCGGACGAGGACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAACAGGCCCTC
GCTTGTCACCTAGAGAGCCCAGAGCCTTCTCCACAGATCCAGGTGGGCAGAGGGTACAGCGTCTGACTCCACCTCAAGCCCAGGCTCAGG
GACTGCTACTTATCTATGGTTTGTTGTTTACGTTCATAATTGGAAAAAATGTGAAATC-3'

[Top]

RS ID: 61623451 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40042720

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	G [Gly] / G [Gly]
coding-synonymous	NM_021096	NP_066919	3	G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAGCACCGGCTGATGCTGGAGCAGCGGCAGCGCTACCTGTCCTCCAGCACGGTGGCCAGCTACGCCGAGCCTGG C/T GACTGCT
ACGAGGAGATCTTCCAGTATGTCTGCCACATCCTGCGCAAGGCCAAGCGCCGCGCCCTGGGCCTCTAC-3'

[Top]

RS ID: 61607492 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40037071

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	G [Gly] / S [Ser]
missense	NM_021096	NP_066919	1	G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGCCGTGAGTGCTGCCTGTCCAAGGACGACGTCTACGACTTTGGGGCGGGGCGCCAGGACCTCAATGCCAGC A/G GCCTCTG
TGTCAACTGGAACCGTTACTACAATGTGTGCCGCACGGGCAGCGCCAACCCCCACAAGGGTGCCATCA-3'

[Top]

RS ID: 61417992 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40030684

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	A [Ala] / V [Val]
missense	NM_021096	NP_066919	2	A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATGCTGGGGAATGTCCTGCTGCTCTGCTTCTTTGTCTTCTTCATCTTTGGCATCATAGGTGTGCAGCTCTGGG C/T GGGCCTG
CTGCGTAACCGCTGCTTCCTGGAGGAGAACTTCACCATGTGAGTTCATCCCCTGCCACCCATGCAGCT-3'

[Top]

RS ID: 61065928 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40078584

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	P [Pro] / P [Pro]
coding-synonymous	NM_021096	NP_066919	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACCCACCTGAGCCCATGCGTGTGGGAGACCTGGGCGAATGCTTCTTCCCCTTGTCCTCTACGGCCGTCTCGCC A/G GATCCAG
AGAACTTCCTGTGTGAGATGGAGGAGATCCCATTCAACCCTGTCCGGTCCTGGCTGAAACATGACAGC-3'

[Top]

RS ID: 61055745 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40045588

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	P [Pro] / P [Pro]
coding-synonymous	NM_021096	NP_066919	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCGCAACATAGCCCCCTGGATGCGACGCCCCACACCCTGGTGCAGCCCATCCCCGCCACGCTGGCTTCCGATCC C/T GCCAGCT
GCCCTTGCTGCCAGCATGAGGACGGCCGGCGGCCCTCGGGCCTGGGCAGCACCGACTCGGGCCAGGAG-3'

[Top]

RS ID: 60975716 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40045572

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	T [Thr] / M [Met]
missense	NM_021096	NP_066919	2	T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTTTTCAGAGCTGTGCCCGCAACATAGCCCCCTGGATGCGACGCCCCACACCCTGGTGCAGCCCATCCCCGCCA C/T GCTGGCT
TCCGATCCCGCCAGCTGCCCTTGCTGCCAGCATGAGGACGGCCGGCGGCCCTCGGGCCTGGGCAGCAC-3'

[Top]

RS ID: 60867664 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40056371

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	S [Ser] / L [Leu]
missense	NM_021096	NP_066919	2	S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACT C/T GGACGAG
GACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAA-3'

[Top]

RS ID: 60827626 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40078542

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	L [Leu] / L [Leu]
coding-synonymous	NM_021096	NP_066919	3	L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTCCTGCCCCATCCTACCTCCCTTTCCTTGCAGGGTGAGCTGGACCCACCTGAGCCCATGCGTGTGGGAGACCT C/G GGCGAAT
GCTTCTTCCCCTTGTCCTCTACGGCCGTCTCGCCGGATCCAGAGAACTTCCTGTGTGAGATGGAGGAG-3'

[Top]

RS ID: 60795524 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40015321

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	V [Val] / V [Val]
coding-synonymous	NM_021096	NP_066919	3	V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGTGGCCCGGGCCCTGGCCCCAGCTGGCCTCCAGCACCATCCCTCACTCTCTCTCCTTTCTCTGCAGGATGGT C/T GAGTACT
CCCTGGACCTTCAGAACATCAACCTGTCAGCCATCCGCACCGTGCGCGTCCTGAGGCCCCTCAAAGCC-3'

[Top]

RS ID: 60675613 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40056372

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGGGAGGAGCTGGACTGACCTGCATTCTAACGTGACGGATGCTCTCCCAGGGTGACGCCAATCGCTCCTACTC A/G GACGAGG
ACCAGAGCTCATCCAACATAGAAGAGTTTGATAAGCTCCAGGAAGGCCTGGACAGCAGCGGAGGTAAA-3'

[Top]

RS ID: 60675234 Link_out

Alleles: A/G

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	40030685

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	A [Ala] / A [Ala]
coding-synonymous	NM_021096	NP_066919	3	A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGATGGGAACAGCAAGGAGCCCCTGATAATGCATCCCCCTCCCCCTCCCTGTTTCTCTAACCTTGCTCTCACTCTTTCGTCTCTG
GGACCTCTGCTCCCTGTCTGACCATCCCTCCACCTTTTCCCCTCCCAGGTATGCGGATCCTGGTGAACCTGCTCCTGGACACACTGCCCA
TGCTGGGGAATGTCCTGCTGCTCTGCTTCTTTGTCTTCTTCATCTTTGGCATCATAGGTGTGCAGCTCTGGGC A/G GGCCTGCTGCGT
AACCGCTGCTTCCTGGAGGAGAACTTCACCATGTGAGTTCATCCCCTGCCACCCATGCAGCTCCGGGGACTCTTACTAAGACACAGTTTT
AACCTTCTGGGTCATTGGGAATCAGGACCAATGGGGTAGAAGCAGCAAAAAAAGAGAGGTCAGGTAGGAGGGGAAAGGGAAGTTAAGACA
CAAGCAGAAGTGATGCCCAGGAGGAAAAAGAAGACAGAAAACCTGAAGAGCAGGCACA-3'

[Top]

RS ID: 60658758 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40045537

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	A [Ala] / A [Ala]
coding-synonymous	NM_021096	NP_066919	3	A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGTGTGGGCAACGACTCTATGCCCCTCTCATTTGCTTTTCAGAGCTGTGCCCGCAACATAGCCCCCTGGATGC A/G ACGCCCC
ACACCCTGGTGCAGCCCATCCCCGCCACGCTGGCTTCCGATCCCGCCAGCTGCCCTTGCTGCCAGCAT-3'

[Top]

RS ID: 60617531 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40045583

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	D [Asp] / N [Asn]
missense	NM_021096	NP_066919	1	D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTGCCCGCAACATAGCCCCCTGGATGCGACGCCCCACACCCTGGTGCAGCCCATCCCCGCCACGCTGGCTTCC A/G ATCCCGC
CAGCTGCCCTTGCTGCCAGCATGAGGACGGCCGGCGGCCCTCGGGCCTGGGCAGCACCGACTCGGGCC-3'

[Top]

RS ID: 60265031 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40061569

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	I [Ile] / I [Ile]
coding-synonymous	NM_021096	NP_066919	3	I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCGTCAGTGTCATCAGCCGGGCGCCGGGCCTGAAGCTGGTGGTGGAGACACTCATCTCCTCCCTCAAGCCCAT C/T GGCAACA
TCGTGCTCATCTGCTGTGCCTTCTTCATCATCTTTGGCATCCTGGGAGTGCAGGTGAGGGGTGCCCAG-3'

[Top]

RS ID: 60192012 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	39966777

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	P [Pro] / L [Leu]
missense	NM_021096	NP_066919	2	P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTGTTTCGTAATCCTCATGCAAGAGTGAGGGTGAGGGGCCTGTGGGGCTCAGGTGGGGCTGTCAGAGCTGCATCCGTCCACTTAT
TGGTGGAGAGGCAGGTTGGGGAGCATGTACCAGGCCTGTCCCCACCACGTGCCACCCTCTCTGTCTTCCCCAGGGCTCCCAGCTCAGTGT
GGACATGGCTGAGAGCGCCTCCC C/T GCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCACCACGGAGCAGCCCGGAC
CCCGGAGCCCCCCATCCTCCCCGCCAGGCCTGGAGGAGCCTCTGGATGGAGCTGATCCTCATGTCCCACACCCAGACCTGGCGCCTATTG
CCTTCTTCTGCCTGCGACAGACCACCAGCCCCCGGAACTGGTGCATCA-3'

[Top]

RS ID: 59986512 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40037051

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	R [Arg] / H [His]
missense	NM_021096	NP_066919	2	R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATCCCCCCGCTCAAGGAGCAGGGCCGTGAGTGCTGCCTGTCCAAGGACGACGTCTACGACTTTGGGGCGGGGC A/G CCAGGAC
CTCAATGCCAGCGGCCTCTGTGTCAACTGGAACCGTTACTACAATGTGTGCCGCACGGGCAGCGCCAA-3'

[Top]

RS ID: 59970214 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40015333

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	L [Leu] / L [Leu]
coding-synonymous	NM_021096	NP_066919	3	L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCTGGCCCCAGCTGGCCTCCAGCACCATCCCTCACTCTCTCTCCTTTCTCTGCAGGATGGTCGAGTACTCCCT A/G GACCTTC
AGAACATCAACCTGTCAGCCATCCGCACCGTGCGCGTCCTGAGGCCCCTCAAAGCCATCAACCGCGTG-3'

[Top]

RS ID: 59770443 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40057208

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	P [Pro] / A [Ala]
missense	NM_021096	NP_066919	1	P [Pro] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCATGACCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGA C/G CTGCCCC
CCGACTCTCACTGCAGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTC-3'

[Top]

RS ID: 59635914 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40037036

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	D [Asp] / G [Gly]
missense	NM_021096	NP_066919	2	D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAATGGGCTGCCATGAGATCCCCCCGCTCAAGGAGCAGGGCCGTGAGTGCTGCCTGTCCAAGGACGACGTCTACG A/G CTTTGGG
GCGGGGCGCCAGGACCTCAATGCCAGCGGCCTCTGTGTCAACTGGAACCGTTACTACAATGTGTGCCG-3'

[Top]

RS ID: 59624877 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40057234

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	P [Pro] / P [Pro]
coding-synonymous	NM_021096	NP_066919	3	P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGCAGCC A/G GACCCCA
TGCTGGTGGCCCTGGGCTCCCGAAAGAGCAGTGTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGC-3'

[Top]

RS ID: 59597702 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40045654

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCGATCCCGCCAGCTGCCCTTGCTGCCAGCATGAGGACGGCCGGCGGCCCTCGGGCCTGGGCAGCACCGACTC A/G GGCCAGG
AGGGCTCGGGCTCCGGGAGCTCCGCTGGTGGCGAGGACGAGGCGGATGGGGACGGGGCCCGGAGCAGC-3'

[Top]

RS ID: 59550226 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075834

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATCAAGGACTCCTTGGAGGGGGAGCTGACCATCATCGACAACCTGTCGGGCTCCATCTTCCACCACTACTCCTC A/G CCTGCCG
GCTGCAAGAAGTGTCACCACGACAAGCAAGAGGTAATGGCAGCCCGGGAGGCCTGGCCCCTTGTGGCA-3'

[Top]

RS ID: 59504308 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075341

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	P [Pro] / L [Leu]
missense	NM_021096	NP_066919	2	P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAAGGAGGCGCAGGAGGACGCCGAGATGGATGCCGAGCTCGAGCTGGAGATGGCCCATGGCCTGGGCCCTGGCC C/T GAGGCTG
CCTACCGGCTCCCCGGGCGCCCCTGGCCGAGGGCCGGGAGGGGCGGGCGGCGGGGGCGACACCGAGGG-3'

[Top]

RS ID: 59305953 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075324

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	H [His] / H [His]
coding-synonymous	NM_021096	NP_066919	3	H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCACCTGGACGACAGCAACAAGGAGGCGCAGGAGGACGCCGAGATGGATGCCGAGCTCGAGCTGGAGATGGCCCA C/T GGCCTGG
GCCCTGGCCCGAGGCTGCCTACCGGCTCCCCGGGCGCCCCTGGCCGAGGGCCGGGAGGGGCGGGCGGC-3'

[Top]

RS ID: 59154418 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40068267

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	V [Val] / L [Leu]
missense	NM_021096	NP_066919	1	V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTCCTCCATAGTCCCTGGAGACAGCCCTCAAGTACTGCAACTATATGTTCACCACTGTCTTTGTGCTGGAGGCT G/T TGCTGAA
GCTGGTGGCATTTGGTCTGAGGCGCTTCTTCAAGGACCGGTGAGTGGCCAGGCTGGATTAGGGCAGTA-3'

[Top]

RS ID: 59107946 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40037046

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	A [Ala] / A [Ala]
coding-synonymous	NM_021096	NP_066919	3	A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATGAGATCCCCCCGCTCAAGGAGCAGGGCCGTGAGTGCTGCCTGTCCAAGGACGACGTCTACGACTTTGGGGC A/G GGGCGCC
AGGACCTCAATGCCAGCGGCCTCTGTGTCAACTGGAACCGTTACTACAATGTGTGCCGCACGGGCAGC-3'

[Top]

RS ID: 59097762 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075323

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	H [His] / L [Leu]
missense	NM_021096	NP_066919	2	H [His] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCACCTGGACGACAGCAACAAGGAGGCGCAGGAGGACGCCGAGATGGATGCCGAGCTCGAGCTGGAGATGGCCC A/T TGGCCTG
GGCCCTGGCCCGAGGCTGCCTACCGGCTCCCCGGGCGCCCCTGGCCGAGGGCCGGGAGGGGCGGGCGG-3'

[Top]

RS ID: 59010602 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40045718

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	A [Ala] / S [Ser]
missense	NM_021096	NP_066919	1	A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCACCGACTCGGGCCAGGAGGGCTCGGGCTCCGGGAGCTCCGCTGGTGGCGAGGACGAGGCGGATGGGGACGGG G/T CCCGGAG
CAGCGAGGACGGAGCCTCCTCAGAACTGGGGAAGGAGGAGGAGGAGGAGGAGCAGGCGGATGGGGCGG-3'

[Top]

RS ID: 58955204 Link_out

Alleles: C/T

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40045804

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	C [Cys] / C [Cys]
coding-synonymous	NM_021096	NP_066919	3	C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGAGGACGGAGCCTCCTCAGAACTGGGGAAGGAGGAGGAGGAGGAGGAGCAGGCGGATGGGGCGGTCTGGCTGTG C/T GGGGATG
TGTGGCGGGAGACGCGAGCCAAGCTGCGCGGCATCGTGGACAGCAAGTACTTCAACCGGGGCATCATG-3'

[Top]

RS ID: 58772485 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40042814

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	R [Arg] / C [Cys]
missense	NM_021096	NP_066919	1	R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCAGTATGTCTGCCACATCCTGCGCAAGGCCAAGCGCCGCGCCCTGGGCCTCTACCAGGCCCTGCAGAGCCGG C/T GCCAGGC
CCTGGGCCCGGAGGCCCCGGCCCCCGCCAAACCTGGGCCCCACGCCAAGGAGCCCCGGCACTACCGTA-3'

[Top]

RS ID: 58500586 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40059828

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	3	Q [Gln] / H [His]
missense	NM_021096	NP_066919	3	Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACAAACTCTTCGACTACGTCGTCCTGGCCTTCATCTTTCTCAACTGCATCACCATCGCCCTGGAGCGGCCTCA C/G ATCGAGG
CCGGCAGCACCGTGAGTGGCTGTAGCCTTTGGGCAGGGCAGGCGCCAGGCCAAGGGACAGCTCGCCAG-3'

[Top]

RS ID: 58395851 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	39996558

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	M [Met] / L [Leu]
missense	NM_021096	NP_066919	1	M [Met] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACCTCACCCTGTCCCTTGCTTCCCTCCTCCTGCCCCTGCAGGTCTTTGATGACTTCATCTTTATCTTCTTTGCC A/C TGGAGAT
GGTGCTCAAGATGGTGGCCCTGGGGATTTTTGGCAAGAAGTGCTACCTCGGGGACACATGGAACCGCC-3'

[Top]

RS ID: 58190731 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40058429

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	E [Glu] / K [Lys]
missense	NM_021096	NP_066919	1	E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCAGGATGCCCAGCATCGCCAAAGACGTCTTCACCAAGATGGGCGACCGCGGGGATCGCGGGGAGGATGAGGAG A/G AAATCGA
CTACGTGAGTGGGGGCGGGGCCGAAGGGGACCTGGTGCGGTGGGATAGGACAGAAGTGGGTGCGGCCC-3'

[Top]

RS ID: 58055559 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40078571

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	T [Thr] / M [Met]
missense	NM_021096	NP_066919	2	T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCAGGGTGAGCTGGACCCACCTGAGCCCATGCGTGTGGGAGACCTGGGCGAATGCTTCTTCCCCTTGTCCTCTA C/T GGCCGTC
TCGCCGGATCCAGAGAACTTCCTGTGTGAGATGGAGGAGATCCCATTCAACCCTGTCCGGTCCTGGCT-3'

[Top]

RS ID: 58021347 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40058393

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	M [Met] / L [Leu]
missense	NM_021096	NP_066919	1	M [Met] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGCAGGCCCGGCCCCCGGGCATGAGGACTGCAATGGCAGGATGCCCAGCATCGCCAAAGACGTCTTCACCAAG A/T TGGGCGA
CCGCGGGGATCGCGGGGAGGATGAGGAGGAAATCGACTACGTGAGTGGGGGCGGGGCCGAAGGGGACC-3'

[Top]

RS ID: 57911777 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40043867

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_021096	NP_066919	3	L [Leu] / L [Leu]
intron	NM_001003406	Not Applicable	Not Applicable	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGAGAAGATAGTAATATTATCTCCACTTTTCAGATGGGAAGACTAAGGGTCAGGGAGATGAAGGGAGACATCT C/T GGAAGCC
GGCATTGCCAGACTTTGCATGGGCCTGCCTCCCCTGGAAATGATCACTCGGGAAGAGGCAAGCCAGGG-3'

[Top]

RS ID: 57732048 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40043877

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
intron	NM_001003406	Not Applicable	Not Applicable	Not Applicable
missense	NM_021096	NP_066919	1	H [His] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGTAATATTATCTCCACTTTTCAGATGGGAAGACTAAGGGTCAGGGAGATGAAGGGAGACATCTCGGAAGCCGG A/C ATTGCCA
GACTTTGCATGGGCCTGCCTCCCCTGGAAATGATCACTCGGGAAGAGGCAAGCCAGGGCCACGGGAGG-3'

[Top]

RS ID: 57495596 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40038840

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	Y [Tyr] / Y [Tyr]
coding-synonymous	NM_021096	NP_066919	3	Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTA C/T GTGATGG
ATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGG-3'

[Top]

RS ID: 57356020 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075861

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	H [His] / H [His]
coding-synonymous	NM_021096	NP_066919	3	H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCATCATCGACAACCTGTCGGGCTCCATCTTCCACCACTACTCCTCGCCTGCCGGCTGCAAGAAGTGTCACCA C/T GACAAGC
AAGAGGTAATGGCAGCCCGGGAGGCCTGGCCCCTTGTGGCAGGGGCAGCACGAAACCTGGTGGGGGGC-3'

[Top]

RS ID: 57299573 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40058145

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	P [Pro] / L [Leu]
missense	NM_021096	NP_066919	2	P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGAGCATGAGTCCCTGCTCTCTGCGGAGCGCGGCGGCGGCGCCCGGGTCTGCGAGGTTGCCGCGGACGAGGGGC C/T GCCGCGG
GCCGCACCCCTGCACACCCCACACGCCCACCACATTCATCACGGGCCCCATCTGGCGCACCGCCACCG-3'

[Top]

RS ID: 57288507 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40058372

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	A [Ala] / T [Thr]
missense	NM_021096	NP_066919	1	A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCCCCGGGCCGCCTGGAGGGCGGCAGGCCCGGCCCCCGGGCATGAGGACTGCAATGGCAGGATGCCCAGCATC A/G CCAAAGA
CGTCTTCACCAAGATGGGCGACCGCGGGGATCGCGGGGAGGATGAGGAGGAAATCGACTACGTGAGTG-3'

[Top]

RS ID: 57098460 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40075807

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGTGGCTGGACAGCGTCTCTTTAATCATCAAGGACTCCTTGGAGGGGGAGCTGACCATCATCGACAACCTGTC A/G GGCTCCA
TCTTCCACCACTACTCCTCGCCTGCCGGCTGCAAGAAGTGTCACCACGACAAGCAAGAGGTAATGGCA-3'

[Top]

RS ID: 56859827 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40045685

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	A [Ala] / T [Thr]
missense	NM_021096	NP_066919	1	A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATGAGGACGGCCGGCGGCCCTCGGGCCTGGGCAGCACCGACTCGGGCCAGGAGGGCTCGGGCTCCGGGAGCTCC A/G CTGGTGG
CGAGGACGAGGCGGATGGGGACGGGGCCCGGAGCAGCGAGGACGGAGCCTCCTCAGAACTGGGGAAGG-3'

[Top]

RS ID: 56656729 Link_out

Alleles: A/C

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40075733

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	L [Leu] / M [Met]
missense	NM_021096	NP_066919	1	L [Leu] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCACAGAGACCTCTGTCTTTCTGGGCCCCACCCTGCTCAGCTCCATAGAAGGGGTGACCCTGTGATGAGGGGGTCGGTCCCAGGCC
ATGGGCGCAGAGAACCAACCGGGAGGGCAGCTGTGTCCTGCCCACCCCACAGCCCCGGGACCCGGCTGATAATCCCGCCTGTCCCCACCC
CGTCCCCGTCCGCCTAGGAGAAC A/C TGTGGCTGGACAGCGTCTCTTTAATCATCAAGGACTCCTTGGAGGGGGAGCTGACCATCATC
GACAACCTGTCGGGCTCCATCTTCCACCACTACTCCTCGCCTGCCGGCTGCAAGAAGTGTCACCACGACAAGCAAGAGGTAATGGCAGCC
CGGGAGGCCTGGCCCCTTGTGGCAGGGGCAGCACGAAACCTGGTGGGG-3'

[Top]

RS ID: 55968092 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	40066117

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	L [Leu] / L [Leu]
coding-synonymous	NM_021096	NP_066919	3	L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAGCCACCTTCCTGGAGGCAGGCTCAACACATGCCCACTCCATGGAGGCTCAGCCAGGATGGGCACCTCCCCATGGCCCTGTAGGG
CCCAATCAGCCTCCTCAGCCCTTTCTGACTCCCCTGCAGCCTGTGACCAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTG
CTCATCGTCAGCTTCTTTGTGCT C/T AACATGTTTGTGGGTGTCGTGGTGGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGCTGA
AGAGGCACGGCGGCGTGAGGAGAAGCGGCTGCGGCGCCTGGAGAAGAAGCGCCGGAGTGAGTGGGTGCCTGTGGAGGGCGTGGGCCACCC
AGCTCTAAGCCCTTCTGCCTGGGCCTGACCCCAGCCTCCTGAGCCTTT-3'

[Top]

RS ID: 35716317 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40078639

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_001003406	NP_001003406	1	S [Ser] / L [Leu]
frameshift	NM_021096	NP_066919	1	S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGATTTTGGAAGATGGTCAGGTAGAGGAGGTGAGAGGAAGGTCAGACTAGACATGAGGGTAGCCTAGTTAAGCAAGGGGCCGTGGA
GCAGGTCATGAGGTACCCTTCATGAGCTGTCCCCCTTCCCAGTCCTGCCCCATCCTACCTCCCTTTCCTTGCAGGGTGAGCTGGACCCAC
CTGAGCCCATGCGTGTGGGAGACCTGGGCGAATGCTTCTTCCCCTTGTCCTCTACGGCCGTCTCGCCGGATCCAGAGAACTTCCTGTGTG
AGATGGAGGAGATCCCATTCAACCCTGTCCGGT -/C CCTGGCTGAAACATGACAGCAGTCAAGGTGAGGGGTGGGAGCCCTGCCAGCT
CCCCACAGCCCTCATCTTGGGCATCTGCTTCAGAGGGAGATGGCTGAGTTTTTTCCTTAGTATTTTTACCCAGATTATTATATTTAGTCC
AGAAAGAACCAGATGGATATCTGACAATGAGAGATAGACTCTCAGGCCTGATATAACAATGATAAAAGATCAAGAGCCAAATAGTACAAA
AAGATGAGGTAATTATAACAAAAACCTAAGCATCTAAAGGAAGCTTCATGCTGAGCTTCCTAGGAGCC-3'

[Top]

RS ID: 34524733 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40037023

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_001003406	NP_001003406	1	E [Glu] / X
frameshift	NM_021096	NP_066919	1	E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGTGACCAAGGCAGGGGAACAGCATGTGCCAAGGCCTGGAGGCAGTGACAAGGCCATCCTGCTATGCTGCATGGCCTCTCCCTTCC
TGATCCTCCTGACAGTGACCCCTCCCCTTTCCCTCTTTTACCCACCCTCGCCTGTGGACAGACAAGGGGATGTGGCCTTGCCCCCATACT
ACCAGCCGGAGGAGGATGATGAGATGCCCTTCATCTGCTCCCTGTCGGGCGACAATGGGATAATGGGCTGCCATGAGATCCCCCCGCTCA
AGGAGCAGGGCCGTGAGTGCTGCCTGTCCAAGG -/T ACGACGTCTACGACTTTGGGGCGGGGCGCCAGGACCTCAATGCCAGCGGCCT
CTGTGTCAACTGGAACCGTTACTACAATGTGTGCCGCACGGGCAGCGCCAACCCCCACAAGGGTGCCATCAACTTTGACAACATCGGTTA
TGCTTGGATTGTCATCTTCCAGGTGAGGCCATTCAGGCCTGGGGCCAGCCTGGTCCTAGAGTGGGCAGCTCTGCCTGGTGGGCAGGGCTC
TGTGCTAGGCATTTGCCAGCCCTCATCTCACTGAAACCTGCCCAGCTTGCTGGCAGAATAGGCATTAT-3'

[Top]

RS ID: 34197447 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40043923

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
frameshift	NM_021096	NP_066919	2	S [Ser] / C [Cys]
intron	NM_001003406	Not Applicable	Not Applicable	Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCAGGCTGGTCTCAAACTCCTGGGCTCACGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCGC
CCCTGGCCAAGTTTATGCTTTTAGGCTTGGAAGGGGCTGCCCTGTTGGTTGCCTCATCTGTTCCAGGAAACGGTCCTGAGAAGGGAGAAG
ATAGTAATATTATCTCCACTTTTCAGATGGGAAGACTAAGGGTCAGGGAGATGAAGGGAGACATCTCGGAAGCCGGCATTGCCAGACTTT
GCATGGGCCTGCCTCCCCTGGAAATGATCACTC -/G GGGAAGAGGCAAGCCAGGGCCACGGGAGGTGGGCCCTGCCCCCAGCCCCAAT
ACCACTTCTCCCAGTTGGTGCTGAGAAGGAAGTCGGCAGGCATGGGGACGGCGCTTGAGCAGCCGCGACCCTCTGCAGGCCTGTCTCCCT
CTATAAAGTGAGGACAGGGGCCCCCAGCACGTGGCCGTCCACGGCGGGAGTCAGCCACCCCAGGCCCTGCTCTGGAAAGCCCTGTCCTTC
CAGCTCTCACAGTCTGGGAATCGATTCTTGGGAGGCAAGCAGAAGAATGCACGCTCAGAGCTGCCGCC-3'

[Top]

RS ID: 28689876 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome	Reference Position
22	40069013

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	E [Glu] / G [Gly]
missense	NM_021096	NP_066919	2	E [Glu] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTAGTAAGGGAGGGCAGCCACACAGCCTAATGGGCCACAATAGAAGGGTCAGGACCTGGGAGGCTCCCCCCACTAAGGTGTGTCTGA
ACCAGAGGGATCCTCCTCATGCCCACTCCTGCCCTCCCATGCACGGCTGAGCAGATGGAACCAGCTGGACCTGGCCATTGTGCTACTGTC
AGTCATGGGCATCACCCTGGAGG A/G GATCGAGATCAATGCGGCCCTGCCCATCAATCCCACCATCATCCGCATCATGAGGGTTCTGC
GCATTGCCCGAGGTGAGGGGCAAGGGGTGGGACAGGGAACGGGGACAAGCAGGGGCGGGATGAGACTCCTCATTGCCTGATGAGAACACA
CAGGAGTGGGGTGGGGAGGGGTGGGGGCAGGAGTTTGCAGGCATGGTG-3'

[Top]

RS ID: 28536728 Link_out

Alleles: A/G

Validation:

By cluster

Details:

Chromosome	Reference Position
22	40054161

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	E [Glu] / G [Gly]
missense	NM_021096	NP_066919	2	E [Glu] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGT
GAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCACAGCTGCCCTCTGGCCTGACCGGGTCTCCATTCC
CCACCCCAATGCCCCACAGCCGG A/G GGAGCTGACCAACATCCTGGAGATCTGCAATGTGGTCTTCACCAGCATGTTTGCCCTGGAGA
TGATCCTGAAGCTGGCTGCATTTGGGCTCTTCGACTACCTGCGTAACCCCTACAACATCTTCGACAGCATCATTGTCATCATCAGGTACC
CCTCCCCCAACCCACCCGGCAGCAGAGTGCCTCGGGGGGACATTTACT-3'

[Top]

RS ID: 16985844 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	40060767

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	F [Phe] / F [Phe]
coding-synonymous	NM_021096	NP_066919	3	F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGCGGCCTGCTGGGCCCTGACCCTGCCCTGTCCCCTCCCATCAACCGCCCTCAGAGGGCGGCCTGAACCCTCCCCTTCCCTTCG
GCCCCGCCACTTGCAGGACCCCGCCCCCTCCCCGAAGCCGATCAGGCCTCGCCCCGCCCCCTTGCATAGAGCCCGGTTGGCCCCGCCCAC
CTGCCCGCCCCTCCCGCGGCAGCCTGACCCCGGCCCCACCCCCGCCCCAGGTAGTCTCGCTGGGCCTGTACTT C/T GGCGAGCAGGCG
TACCTACGCAGCAGCTGGAACGTGCTGGATGGCTTTCTTGTCTTCGTGTCCATCATCGACATCGTGGTGTCCCTGGCCTCAGCCGGGGGA
GCCAAGATCTTGGGGGTCCTCCGAGTCTTGCGGCTCCTGCGCACCCTACGCCCCCTGCGGTGAGGACCCCTCCTGGGCGGATGGGGGAAA
GTGTCATGCACTGTACCGAGAAGCCACGGGTCGAATTGGGCCCTCACTCCGCCCTCCC-3'

[Top]

RS ID: 11912559 Link_out

Alleles: A/G

Validation:

By hap map
By cluster

Details:

Chromosome	Reference Position
22	40061511

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	S [Ser] / N [Asn]
missense	NM_021096	NP_066919	2	S [Ser] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCGTGTCTGGGCTGCCTGGCCACTTTCTCTGCATTCCTGGAGACTGTCCTCATGCCCCAGGGTGTTCAGCCCTGGTGAGCCCTGGG
GACTCATGCCCTGGGATACTCAGCCCTGGTGACTCTGGGCTGAGTAGGGGCTGCCTCCTGGCCTGGCCAAGGGATTATGTGTGCCTGGCC
TCTCCCTGCCGTCAGTGTCATCA A/G CCGGGCGCCGGGCCTGAAGCTGGTGGTGGAGACACTCATCTCCTCCCTCAAGCCCATCGGCA
ACATCGTGCTCATCTGCTGTGCCTTCTTCATCATCTTTGGCATCCTGGGAGTGCAGGTGAGGGGTGCCCAGTCTGGGCAGGGACTGGGCT
CTGTGACTGGGGAAAAGGAAGTCTCAGACAGCCAGGGGAGAGACTCCA-3'

[Top]

RS ID: 9611199 Link_out

Alleles: G/T

Validation:

By cluster

Details:

Chromosome	Reference Position
22	39966766

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	3	E [Glu] / D [Asp]
missense	NM_021096	NP_066919	3	E [Glu] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGAGAGGCAGGTTGGGGAGCATGTACCAGGCCTGTCCCCACCACGTGCCACCCTCTCTGTCTTCCCCAGGGCTCCCAGCTCAGTG
TGGACATGGCTGA G/T AGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCACCACGGAGCAGCCCGGA
CCCCGGAGCCCCCCATCCTCCCCGCCAG-3'

[Top]

RS ID: 8141262 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	40066958

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	2	T [Thr] / M [Met]
missense	NM_021096	NP_066919	2	T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCCTCCCTTTCCTCCACCTTTCTGTCCTTTGTGCTCTGTGCCCTTTCCCTTGACCCCAACCCTCTGTGGTCTTTGCCACTCCCCCT
GCACCACCTGCAGAGGCCCAGCGGCTGCCCTACTATGCCACCTATTGTCACACCCGGCTGCTCATCCACTCCATGTGCACCAGCCACTAC
CTGGACATCTTCATCACCTTCATCATCTGCCTCAACGTGGTCACCATGTCCCTGGAGCACTACAATCAGCCCA C/T GGTGAGCCCTGG
TCTGCCTCCCAGCCCAAGGTTACAAGGTGAGGGTGGGGTCTCAGCAGGACCCCACCCCAGGGATAGGGTGGGGAAGGGGTTAGCTGATAG
CAGGATGTGAGCAGCCCCTCCATGCTGGGCTCTATGCTGGGCACTGCAGTGGGAGGAGGTGCCGGACAAGCTTGCCCTCAGGAAGCTCAG
AGTCTGGAAGGGAACGGTCAGAGGGAAGGTGGGTCAGGGAGGCAGGATTTGGACCGTG-3'

[Top]

RS ID: 5757761 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome	Reference Position
22	40054948

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	I [Ile] / I [Ile]
coding-synonymous	NM_021096	NP_066919	3	I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGgaaacaactgcatcggctgtcacgtgacgtgaagacaccagttactttgattgccacaaagccataggtactgctaattctctgt
ggcttcctgtttacattcataaccaaaagacacgttaaatctcaaaaagaggacagtgaTATCCATGGACCTCCGGATTCTAGCCAGAGA
CTTCTTGTGGGGGTGGTGGTGGTCCATGGACTCCAAGTGAAGAGCCCCTGATTAGCTTGTGGCGTGGAGCAGCATCCAACATATTTGTCA
GATGGATGGATGAATGGAAGCTCTGTCTCTCTGTTTTCCCTTCTCCCTCTGTCTTCCTCTCCCCCTGGCCTCCTACTGCTGCCTCCTACC
TGTACCCTGGGCCTGCCCTGCGGGACCGCAGCATCTGGGAGAT C/T GTGGGGCAGGCGGACGGTGGGCTGTCGGTGCTGCGGACCTTC
CGGCTGCTGCGCGTGCTGAAACTGGTGCGCTTCATGCCTGCCCTGCGGCGCCAGCTCGTGGTGCTCATGAAGACCATGGACAACGTGGCC
ACCTTCTGCATGCTGCTCATGCTCTTCATCTTCATCTTCAGGTGAGCCTGCCCTGCTGGGGGCCATACCTCAGCACCTGCTGGGGCTGTG
GGCGGGAGCCTGGGGGATGTGGTCCACTGTGCTTctctggacaaagccacctggacctgggtgtgaagcctgacactgttcctcagtccc
ctgtggctttcagcaagcatgaacccctaagcctcagtgttcatctctgtaaaatgggACCAACGCTGCCCCGCCTCCCCCTGCCCTG-3
'

[Top]

RS ID: 3747178 Link_out

Alleles: C/T

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	39966856

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGGCTTTATTCTCCCCACTATCTTCGTTTGCCAAAACTGAGGCTCAGCCAGGGTGAGCAGACTTGCCCCATGATCACCCAGCTTGG
AAGCAGATTCCAAGTTGGGTGCAGCTGGGCCCTCAGCTGTTTCGTAATCCTCATGCAAGAGTGAGGGTGAGGGGCCTGTGGGGCTCAGGT
GGGGCTGTCAGAGCTGCATCCGTCCACTTATTGGTGGAGAGGCAGGTTGGGGAGCATGTACCAGGCCTGTCCCCACCACGTGCCACCCTC
TCTGTCTTCCCCAGGGCTCCCAGCTCAGTGTGGACATGGCTGAGAGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGC
CAGGAGTCACCACGGAGCAGCCCGGACCCCGGAGCCCCCCATC C/T TCCCCGCCAGGCCTGGAGGAGCCTCTGGATGGAGCTGATCCT
CATGTCCCACACCCAGACCTGGCGCCTATTGCCTTCTTCTGCCTGCGACAGACCACCAGCCCCCGGAACTGGTGCATCAAGATGGTGTGC
AACCCATATCCTCCGCAGCCTCGGCTGATCGGGGCCCTGCAGGGGCTGAAGGGTGGGGGGCTGGATTGAGTCCTGCTGCTCACACCTTGC
TCCGGCTGGGAGACCTGAGGTCTGCGGTGAGGCCACTGGGCCTTGGTGGTGGTGAGCGAGCTCAGAGGGTGGGTCTGGGGAGACCTCAAA
TGGATGAGGACCTGGTGTTCTGCTGATGTGAAGGTTCTGGAAGTTGCTGGTGGCTGTGGGGTCAGTCCAGTGGCTGGCTGGCTCAGAA-3
'

[Top]

RS ID: 2294369 Link_out

Alleles: A/G

Validation:

By frequency
By cluster

Details:

Chromosome	Reference Position
22	40075400

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	G [Gly] / R [Arg]
missense	NM_021096	NP_066919	1	G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGCCACGCAGGACACGCTGCGGGACTGCACCCACGACGAGCGCAGCTGCCTGAGCAGCCTGCAGTTTGTGTCGCCGCTGTACTTC
GTGAGCTTCGTGCTCACCGCGCAGTTCGTGCTCATCAACGTGGTGGTGGCTGTGCTCATGAAGCACCTGGACGACAGCAACAAGGAGGCG
CAGGAGGACGCCGAGATGGATGCCGAGCTCGAGCTGGAGATGGCCCATGGCCTGGGCCCTGGCCCGAGGCTGCCTACCGGCTCCCCGGGC
GCCCCTGGCCGAGGGCCGGGAGGGGCGGGCGGC A/G GGGGCGACACCGAGGGCGGCTTGTGCCGGCGCTGCTACTCGCCTGCCCAGGT
GGGCAGGGGCTGGAGAGGTGCGAGGGTCGCCAGAGGGGGGGCACCGCAGGGCCAGATGGGCAGCAGGGCCAGGGAGGCCTTGCACAGAGA
CCTCTGTCTTTCTGGGCCCCACCCTGCTCAGCTCCATAGAAGGGGTGACCCTGTGATGAGGGGGTCGGTCCCAGGCCATGGGCGCAGAGA
ACCAACCGGGAGGGCAGCTGTGTCCTGCCCACCCCACAGCCCCGGGACCCGGCTGATAATCCCGCCTG-3'

[Top]

RS ID: 136853 Link_out

Alleles: A/G

Validation:

By frequency
By hap map
By cluster

Details:

Chromosome	Reference Position
22	40058186

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
missense	NM_001003406	NP_001003406	1	I [Ile] / V [Val]
missense	NM_021096	NP_066919	1	I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGGATGTGGATGGAGTGAGGTGGGACAGGGAGAGGAGCTCTAGGGTCAAGCCCATTCCATCACCCGCTGGCCAGGTGGGTGGTCT
TAGAGCCACAGCGGGGGTGCAGGCTGCCTTTGGGCACCTGGTGCCCCAGCCGTGGGTGTGCCTGTGGGGCGCTGACCCGAACGGGAACTC
CTTCCAGTCCAGCTCCCGGAGCTCCTACTACGGGCCATGGGGCCGCAGCGCGGCCTGGGCCAGCCGTCGCTCCAGCTGGAACAGCCTCAA
GCACAAGCCGCCGTCGGCGGAGCATGAGTCCCTGCTCTCTGCGGAGCGCGGCGGCGGCGCCCGGGTCTGCGAGGTTGCCGCGGACGAGGG
GCCGCCGCGGGCCGCACCCCTGCACACCCCACACGCCCACCAC A/G TTCATCACGGGCCCCATCTGGCGCACCGCCACCGCCACCACC
GCCGGACGCTGTCCCTCGACAACAGGGACTCGGTGGACCTGGCCGAGCTGGTgcccgcggtgggcgcccacccccgggccgcctggaggg
cggcaggcccggcccccgggcATGAGGACTGCAATGGCAGGATGCCCAGCATCGCCAAAGACGTCTTCACCAAGATGGGCGACCGCGGGG
ATCGCGGGGAGGATGAGGAGGAAATCGACTACGTGAGTGGGGGCGGGGCCGAAGGGGACCTGGTGCGGTGGGATAGGACAGAAGTGGGTG
CGGCCCCAGGAggcggggcccgagcgggcgggcccacggggggcgtggccggggcgTGGCCGGAGCGGCTAGGGCTTCAGGTGTGAGG-3
'

[Top]

RS ID: 136852 Link_out

Alleles: C/T

Validation:

By cluster
By frequency
By submitter
By hap map

Details:

Chromosome	Reference Position
22	40057273

Function Class	mRNA Accession	Protein Accession	Reading Frame	Amino Acids
coding-synonymous	NM_001003406	NP_001003406	3	S [Ser] / S [Ser]
coding-synonymous	NM_021096	NP_066919	3	S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGAGCACAGAAGGCAAGGGGTCCACACATACCTAAATAAAGCTAAGAGCCCTGCAGGTGGGGCGAAGGGGAGGCACTGTGATGGG
GTGCAACCAGGAAGACTTCCTGGTAGAGGAAGCCTCCTTAGAAAAGCTCTCCATTTCTGCTCCTTCCTTGTTTGTCTGTCTCGTGGCTCC
CTTGCTGTTGTTCTGTCCTGTCTGCCATCTGTCCCTCCCTCTGTCTCCATCTCACTCCTCCAGATCCCAAGCTCTGCCCAATCCCCATGA
CCCCCAATGGGCACCTGGACCCCAGTCTCCCACTGGGTGGGCACCTAGGTCCTGCTGGGGCTGCGGGACCTGCCCCCCGACTCTCACTGC
AGCCGGACCCCATGCTGGTGGCCCTGGGCTCCCGAAAGAGCAG C/T GTCATGTCTCTAGGGAGGATGAGCTATGACCAGCGCTCCCTG
GTGAGTCCTTGTGGGGAGCTCTGGACGGGCGCTTCCTGCTGGGGTGTGTGTGGAGGGGCCCTGAAGAGAGGTACCTGCCAGTCTAGCCTC
AGACTCTGGTGCCCAGCCAAAGTCAGGCAGGGGCCATGTCTGTTGCATTCCTGGGTGCCCAGTGCCAGAGTGGGACCTGGCAATAAGGAA
CGAATGAAGGCCTAGTGCCAGTGGGGTCTGGTGCAGAGAATTGGATTTTCATCTCAGCAACAATGTGTAGGGTAAAaagagctgggcttt
ggagtcaggcagactgcagcttgaatccaccttctgccacttccaagctgtgtgaccaggagcaaattactgcccttctctgagcctc-3
'

SNPJam Report for CACNA1I