SNP Links for Protein (Select 28626517) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38835949 (GRCh38)
20:37464592 (GRCh37)
Canonical SPDI:: NC_000020.11:38835948:G:A
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38835949G>A, NC_000020.10:g.37464592G>A, NM_015568.4:c.24G>A, NM_015568.3:c.24G>A, NM_015568.2:c.24G>A, NM_001172735.3:c.24G>A, NM_001172735.2:c.24G>A, NM_001172735.1:c.24G>A

Select item 145370413117.

rs1453704131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38836133 (GRCh38)
20:37464776 (GRCh37)
Canonical SPDI:: NC_000020.11:38836132:G:T
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38836133G>T, NC_000020.10:g.37464776G>T, NM_015568.4:c.208G>T, NM_015568.3:c.208G>T, NM_015568.2:c.208G>T, NM_001172735.3:c.208G>T, NM_001172735.2:c.208G>T, NM_001172735.1:c.208G>T, NP_056383.1:p.Val70Leu, NP_001166206.1:p.Val70Leu

Select item 145315294618.

rs1453152946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38918598 (GRCh38)
20:37547241 (GRCh37)
Canonical SPDI:: NC_000020.11:38918597:C:T
Gene:: PPP1R16B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38918598C>T, NC_000020.10:g.37547241C>T, XM_011528768.4:c.1648C>T, XM_011528768.3:c.1648C>T, XM_011528768.2:c.1648C>T, XM_011528768.1:c.1648C>T, NM_015568.4:c.1636C>T, NM_015568.3:c.1636C>T, NM_015568.2:c.1636C>T, NM_001172735.3:c.1510C>T, NM_001172735.2:c.1510C>T, NM_001172735.1:c.1510C>T, XM_047440086.1:c.1039C>T, XP_011527070.1:p.Leu550Phe, NP_056383.1:p.Leu546Phe, NP_001166206.1:p.Leu504Phe, XP_047296042.1:p.Leu347Phe

Select item 145264247219.

rs1452642472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38918475 (GRCh38)
20:37547118 (GRCh37)
Canonical SPDI:: NC_000020.11:38918474:A:G
Gene:: PPP1R16B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38918475A>G, NC_000020.10:g.37547118A>G, XM_011528768.4:c.1525A>G, XM_011528768.3:c.1525A>G, XM_011528768.2:c.1525A>G, XM_011528768.1:c.1525A>G, NM_015568.4:c.1513A>G, NM_015568.3:c.1513A>G, NM_015568.2:c.1513A>G, NM_001172735.3:c.1387A>G, NM_001172735.2:c.1387A>G, NM_001172735.1:c.1387A>G, XM_047440086.1:c.916A>G, XP_011527070.1:p.Ser509Gly, NP_056383.1:p.Ser505Gly, NP_001166206.1:p.Ser463Gly, XP_047296042.1:p.Ser306Gly

Select item 144763874720.

rs1447638747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:38835942 (GRCh38)
20:37464585 (GRCh37)
Canonical SPDI:: NC_000020.11:38835941:A:T
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38835942A>T, NC_000020.10:g.37464585A>T, NM_015568.4:c.17A>T, NM_015568.3:c.17A>T, NM_015568.2:c.17A>T, NM_001172735.3:c.17A>T, NM_001172735.2:c.17A>T, NM_001172735.1:c.17A>T, NP_056383.1:p.Asp6Val, NP_001166206.1:p.Asp6Val

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