SNP Links for Protein (Select 767948915) - SNP

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:134320208 (GRCh38)
7:134004960 (GRCh37)
Canonical SPDI:: NC_000007.14:134320207:G:T
Gene:: SLC35B4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000007.14:g.134320208G>T, NC_000007.13:g.134004960G>T, XM_011516645.4:c.8C>A, XM_011516645.3:c.8C>A, XM_011516645.2:c.8C>A, XM_011516645.1:c.8C>A, XP_011514947.1:p.Thr3Asn

Select item 143800286916.

rs1438002869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:134320183 (GRCh38)
7:134004935 (GRCh37)
Canonical SPDI:: NC_000007.14:134320182:C:T
Gene:: SLC35B4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.134320183C>T, NC_000007.13:g.134004935C>T, XM_011516645.4:c.33G>A, XM_011516645.3:c.33G>A, XM_011516645.2:c.33G>A, XM_011516645.1:c.33G>A

Select item 143079702017.

rs1430797020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:134306674 (GRCh38)
7:133991426 (GRCh37)
Canonical SPDI:: NC_000007.14:134306673:A:C,NC_000007.14:134306673:A:T
Gene:: SLC35B4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134306674A>C, NC_000007.14:g.134306674A>T, NC_000007.13:g.133991426A>C, NC_000007.13:g.133991426A>T, NM_032826.5:c.292T>G, NM_032826.5:c.292T>A, NM_032826.4:c.292T>G, NM_032826.4:c.292T>A, XM_011516645.4:c.292T>G, XM_011516645.4:c.292T>A, XM_011516645.3:c.292T>G, XM_011516645.3:c.292T>A, XM_011516645.2:c.292T>G, XM_011516645.2:c.292T>A, XM_011516645.1:c.292T>G, XM_011516645.1:c.292T>A, XR_001744887.3:n.471T>G, XR_001744887.3:n.471T>A, XR_001744887.2:n.537T>G, XR_001744887.2:n.537T>A, XR_001744887.1:n.569T>G, XR_001744887.1:n.569T>A, XR_001744888.3:n.471T>G, XR_001744888.3:n.471T>A, XR_001744888.2:n.537T>G, XR_001744888.2:n.537T>A, XR_001744888.1:n.569T>G, XR_001744888.1:n.569T>A, XR_001744889.3:n.471T>G, XR_001744889.3:n.471T>A, XR_001744889.2:n.537T>G, XR_001744889.2:n.537T>A, XR_001744889.1:n.569T>G, XR_001744889.1:n.569T>A, XR_001744890.3:n.471T>G, XR_001744890.3:n.471T>A, XR_001744890.2:n.537T>G, XR_001744890.2:n.537T>A, XR_001744890.1:n.569T>G, XR_001744890.1:n.569T>A, XM_047420996.1:c.292T>G, XM_047420996.1:c.292T>A, NP_116215.1:p.Ser98Ala, NP_116215.1:p.Ser98Thr, XP_011514947.1:p.Ser98Ala, XP_011514947.1:p.Ser98Thr, XP_047276952.1:p.Ser98Ala, XP_047276952.1:p.Ser98Thr

Select item 142286279518.

rs1422862795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134309450 (GRCh38)
7:133994202 (GRCh37)
Canonical SPDI:: NC_000007.14:134309449:G:A
Gene:: SLC35B4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.134309450G>A, NC_000007.13:g.133994202G>A, NM_032826.5:c.107C>T, NM_032826.4:c.107C>T, XM_011516645.4:c.107C>T, XM_011516645.3:c.107C>T, XM_011516645.2:c.107C>T, XM_011516645.1:c.107C>T, XR_001744887.3:n.286C>T, XR_001744887.2:n.352C>T, XR_001744887.1:n.384C>T, XR_001744888.3:n.286C>T, XR_001744888.2:n.352C>T, XR_001744888.1:n.384C>T, XR_001744889.3:n.286C>T, XR_001744889.2:n.352C>T, XR_001744889.1:n.384C>T, XR_001744890.3:n.286C>T, XR_001744890.2:n.352C>T, XR_001744890.1:n.384C>T, XM_047420996.1:c.107C>T, NP_116215.1:p.Thr36Ile, XP_011514947.1:p.Thr36Ile, XP_047276952.1:p.Thr36Ile

Select item 141828872219.

rs1418288722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:134294890 (GRCh38)
7:133979642 (GRCh37)
Canonical SPDI:: NC_000007.14:134294889:C:T
Gene:: SLC35B4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134294890C>T, NC_000007.13:g.133979642C>T, NM_032826.5:c.939G>A, NM_032826.4:c.939G>A, XM_011516645.4:c.939G>A, XM_011516645.3:c.939G>A, XM_011516645.2:c.939G>A, XM_011516645.1:c.939G>A, XR_001744887.3:n.2311G>A, XR_001744887.2:n.2377G>A, XR_001744887.1:n.2409G>A, XR_001744888.3:n.1545G>A, XR_001744888.2:n.1611G>A, XR_001744888.1:n.1643G>A, XR_001744889.3:n.1380G>A, XR_001744889.2:n.1446G>A, XR_001744889.1:n.1478G>A, XR_001744890.3:n.1274G>A, XR_001744890.2:n.1340G>A, XR_001744890.1:n.1372G>A, XM_047420996.1:c.*116G>A

Select item 141677367820.

rs1416773678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134301816 (GRCh38)
7:133986568 (GRCh37)
Canonical SPDI:: NC_000007.14:134301815:G:A
Gene:: SLC35B4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.134301816G>A, NC_000007.13:g.133986568G>A, NM_032826.5:c.432C>T, NM_032826.4:c.432C>T, XM_011516645.4:c.432C>T, XM_011516645.3:c.432C>T, XM_011516645.2:c.432C>T, XM_011516645.1:c.432C>T, XR_001744887.3:n.611C>T, XR_001744887.2:n.677C>T, XR_001744887.1:n.709C>T, XR_001744888.3:n.611C>T, XR_001744888.2:n.677C>T, XR_001744888.1:n.709C>T, XR_001744889.3:n.611C>T, XR_001744889.2:n.677C>T, XR_001744889.1:n.709C>T, XR_001744890.3:n.611C>T, XR_001744890.2:n.677C>T, XR_001744890.1:n.709C>T, XM_047420996.1:c.432C>T

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