SNP Links for Protein (Select 315468520) - SNP

Links from Protein

Items: 1 to 20 of 86

<< First< Prev

Page of 5

Next >Last >>

Select item 14899602131.

rs1489960213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43800602 (GRCh38)
15:44092800 (GRCh37)
Canonical SPDI:: NC_000015.10:43800601:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.43800602C>T, NC_000015.9:g.44092800C>T, NM_016400.4:c.-21C>T, NM_016400.3:c.4C>T, NR_037673.1:n.625C>T, NM_001199885.1:c.4C>T, NP_001186814.1:p.Arg2Trp

Select item 14828975512.

rs1482897551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43800664 (GRCh38)
15:44092862 (GRCh37)
Canonical SPDI:: NC_000015.10:43800663:G:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800664G>A, NC_000015.9:g.44092862G>A, NM_016400.4:c.42G>A, NM_016400.3:c.66G>A, NR_037673.1:n.687G>A, NM_001199885.1:c.66G>A

Select item 14731940293.

rs1473194029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:43800654 (GRCh38)
15:44092853 (GRCh37)
Canonical SPDI:: NC_000015.10:43800654:GG:GGG
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800656dup, NC_000015.9:g.44092854dup, NM_016400.4:c.34dup, NM_016400.3:c.58dup, NR_037673.1:n.679dup, NM_001199885.1:c.58dup, NP_057484.4:p.Glu12fs, NP_001186814.1:p.Glu20fs

Select item 14710594424.

rs1471059442 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 15:43801524 (GRCh38)
15:44093722 (GRCh37)
Canonical SPDI:: NC_000015.10:43801519:AGAAAGAA:AGAA
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43801520AGAA[1], NC_000015.9:g.44093718AGAA[1], NM_016400.4:c.225_228del, NM_016400.3:c.249_252del, NR_037673.1:n.866AGAA[1], NM_001199885.1:c.193_196del, NP_057484.4:p.Lys75fs, NP_001186814.1:p.Arg65fs

Select item 14617739405.

rs1461773940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43800649 (GRCh38)
15:44092847 (GRCh37)
Canonical SPDI:: NC_000015.10:43800648:G:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800649G>A, NC_000015.9:g.44092847G>A, NM_016400.4:c.27G>A, NM_016400.3:c.51G>A, NR_037673.1:n.672G>A, NM_001199885.1:c.51G>A

Select item 14572756336.

rs1457275633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43800748 (GRCh38)
15:44092946 (GRCh37)
Canonical SPDI:: NC_000015.10:43800747:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800748A>G, NC_000015.9:g.44092946A>G, NM_016400.4:c.126A>G, NM_016400.3:c.150A>G, NR_037673.1:n.771A>G, NM_001199885.1:c.150A>G

Select item 14334769267.

rs1433476926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:43800689 (GRCh38)
15:44092887 (GRCh37)
Canonical SPDI:: NC_000015.10:43800688:G:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.43800689G>T, NC_000015.9:g.44092887G>T, NM_016400.4:c.67G>T, NM_016400.3:c.91G>T, NR_037673.1:n.712G>T, NM_001199885.1:c.91G>T, NP_057484.4:p.Glu23Ter, NP_001186814.1:p.Glu31Ter

Select item 14262632088.

rs1426263208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43801713 (GRCh38)
15:44093911 (GRCh37)
Canonical SPDI:: NC_000015.10:43801712:G:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43801713G>A, NC_000015.9:g.44093911G>A, NM_016400.4:c.273G>A, NM_016400.3:c.297G>A, NR_037673.1:n.918G>A, NM_001199885.1:c.241G>A, NP_057484.4:p.Met91Ile, NP_001186814.1:p.Asp81Asn

Select item 14224277409.

rs1422427740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:43800650 (GRCh38)
15:44092848 (GRCh37)
Canonical SPDI:: NC_000015.10:43800649:G:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.43800650G>T, NC_000015.9:g.44092848G>T, NM_016400.4:c.28G>T, NM_016400.3:c.52G>T, NR_037673.1:n.673G>T, NM_001199885.1:c.52G>T, NP_057484.4:p.Glu10Ter, NP_001186814.1:p.Glu18Ter

Select item 141602495010.

rs1416024950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43800611 (GRCh38)
15:44092809 (GRCh37)
Canonical SPDI:: NC_000015.10:43800610:G:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43800611G>A, NC_000015.9:g.44092809G>A, NM_016400.4:c.-12G>A, NM_016400.3:c.13G>A, NR_037673.1:n.634G>A, NM_001199885.1:c.13G>A, NP_001186814.1:p.Gly5Ser

Select item 140541954211.

rs1405419542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43801528 (GRCh38)
15:44093726 (GRCh37)
Canonical SPDI:: NC_000015.10:43801527:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43801528C>T, NC_000015.9:g.44093726C>T, NM_016400.4:c.229C>T, NM_016400.3:c.253C>T, NR_037673.1:n.874C>T, NM_001199885.1:c.197C>T, NP_001186814.1:p.Thr66Ile

Select item 138434418212.

rs1384344182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43800627 (GRCh38)
15:44092825 (GRCh37)
Canonical SPDI:: NC_000015.10:43800626:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43800627C>T, NC_000015.9:g.44092825C>T, NM_016400.4:c.5C>T, NM_016400.3:c.29C>T, NR_037673.1:n.650C>T, NM_001199885.1:c.29C>T, NP_057484.4:p.Ala2Val, NP_001186814.1:p.Ala10Val

Select item 138117447913.

rs1381174479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:43800686 (GRCh38)
15:44092884 (GRCh37)
Canonical SPDI:: NC_000015.10:43800685:C:G,NC_000015.10:43800685:C:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800686C>G, NC_000015.10:g.43800686C>T, NC_000015.9:g.44092884C>G, NC_000015.9:g.44092884C>T, NM_016400.4:c.64C>G, NM_016400.4:c.64C>T, NM_016400.3:c.88C>G, NM_016400.3:c.88C>T, NR_037673.1:n.709C>G, NR_037673.1:n.709C>T, NM_001199885.1:c.88C>G, NM_001199885.1:c.88C>T, NP_057484.4:p.Pro22Ala, NP_057484.4:p.Pro22Ser, NP_001186814.1:p.Pro30Ala, NP_001186814.1:p.Pro30Ser

Select item 133050584514.

rs1330505845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43800618 (GRCh38)
15:44092816 (GRCh37)
Canonical SPDI:: NC_000015.10:43800617:T:C
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000015.10:g.43800618T>C, NC_000015.9:g.44092816T>C, NM_016400.4:c.-5T>C, NM_016400.3:c.20T>C, NR_037673.1:n.641T>C, NM_001199885.1:c.20T>C, NP_001186814.1:p.Ile7Thr

Select item 129009462715.

rs1290094627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43800693 (GRCh38)
15:44092891 (GRCh37)
Canonical SPDI:: NC_000015.10:43800692:A:G
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800693A>G, NC_000015.9:g.44092891A>G, NM_016400.4:c.71A>G, NM_016400.3:c.95A>G, NR_037673.1:n.716A>G, NM_001199885.1:c.95A>G, NP_057484.4:p.Lys24Arg, NP_001186814.1:p.Lys32Arg

Select item 127796639616.

rs1277966396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43800669 (GRCh38)
15:44092867 (GRCh37)
Canonical SPDI:: NC_000015.10:43800668:G:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43800669G>A, NC_000015.9:g.44092867G>A, NM_016400.4:c.47G>A, NM_016400.3:c.71G>A, NR_037673.1:n.692G>A, NM_001199885.1:c.71G>A, NP_057484.4:p.Ser16Asn, NP_001186814.1:p.Ser24Asn

Select item 127119873517.

rs1271198735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:43800698 (GRCh38)
15:44092896 (GRCh37)
Canonical SPDI:: NC_000015.10:43800697:C:A
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43800698C>A, NC_000015.9:g.44092896C>A, NM_016400.4:c.76C>A, NM_016400.3:c.100C>A, NR_037673.1:n.721C>A, NM_001199885.1:c.100C>A

Select item 124743128718.

rs1247431287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:43800628 (GRCh38)
15:44092826 (GRCh37)
Canonical SPDI:: NC_000015.10:43800627:G:A,NC_000015.10:43800627:G:C
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800628G>A, NC_000015.10:g.43800628G>C, NC_000015.9:g.44092826G>A, NC_000015.9:g.44092826G>C, NM_016400.4:c.6G>A, NM_016400.4:c.6G>C, NM_016400.3:c.30G>A, NM_016400.3:c.30G>C, NR_037673.1:n.651G>A, NR_037673.1:n.651G>C, NM_001199885.1:c.30G>A, NM_001199885.1:c.30G>C

Select item 124548593719.

rs1245485937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:43800609 (GRCh38)
15:44092807 (GRCh37)
Canonical SPDI:: NC_000015.10:43800608:G:A,NC_000015.10:43800608:G:T
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43800609G>A, NC_000015.10:g.43800609G>T, NC_000015.9:g.44092807G>A, NC_000015.9:g.44092807G>T, NM_016400.4:c.-14G>A, NM_016400.4:c.-14G>T, NM_016400.3:c.11G>A, NM_016400.3:c.11G>T, NR_037673.1:n.632G>A, NR_037673.1:n.632G>T, NM_001199885.1:c.11G>A, NM_001199885.1:c.11G>T, NP_001186814.1:p.Arg4His, NP_001186814.1:p.Arg4Leu

Select item 122494500120.

rs1224945001 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:43801564 (GRCh38)
15:44093763 (GRCh37)
Canonical SPDI:: NC_000015.10:43801564:T:TT
Gene:: HYPK (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43801565dup, NC_000015.9:g.44093763dup, NM_016400.4:c.266dup, NM_016400.3:c.290dup, NR_037673.1:n.911dup, NM_001199885.1:c.234dup, NP_057484.4:p.Ile90fs, NP_001186814.1:p.Asn79Ter

<< First< Prev

Page of 5

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 86

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity