SNP Links for Protein (Select 4506015) - SNP

Links from Protein

Items: 1 to 20 of 105

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Select item 14892812561.

rs1489281256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850192 (GRCh38)
1:28176703 (GRCh37)
Canonical SPDI:: NC_000001.11:27850191:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27850192C>T, NC_000001.10:g.28176703C>T, NM_014110.5:c.802C>T, NM_014110.4:c.802C>T, NM_002713.4:c.130C>T, NM_002713.3:c.130C>T, NM_138558.3:c.376C>T, NM_138558.2:c.376C>T, NP_054829.2:p.Pro268Ser, NP_002704.1:p.Pro44Ser, NP_612568.1:p.Pro126Ser

Select item 14883593002.

rs1488359300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27850290 (GRCh38)
1:28176801 (GRCh37)
Canonical SPDI:: NC_000001.11:27850289:T:C
Gene:: PPP1R8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27850290T>C, NC_000001.10:g.28176801T>C, NM_014110.5:c.900T>C, NM_014110.4:c.900T>C, NM_002713.4:c.228T>C, NM_002713.3:c.228T>C, NM_138558.3:c.474T>C, NM_138558.2:c.474T>C

Select item 14872927413.

rs1487292741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27850114 (GRCh38)
1:28176625 (GRCh37)
Canonical SPDI:: NC_000001.11:27850113:G:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27850114G>A, NC_000001.10:g.28176625G>A, NM_014110.5:c.724G>A, NM_014110.4:c.724G>A, NM_002713.4:c.52G>A, NM_002713.3:c.52G>A, NM_138558.3:c.298G>A, NM_138558.2:c.298G>A, NP_054829.2:p.Gly242Ser, NP_002704.1:p.Gly18Ser, NP_612568.1:p.Gly100Ser

Select item 14684033904.

rs1468403390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:27850336 (GRCh38)
1:28176847 (GRCh37)
Canonical SPDI:: NC_000001.11:27850335:G:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000354/6 (TOMMO)
HGVS:: NC_000001.11:g.27850336G>T, NC_000001.10:g.28176847G>T, NM_014110.5:c.946G>T, NM_014110.4:c.946G>T, NM_002713.4:c.274G>T, NM_002713.3:c.274G>T, NM_138558.3:c.520G>T, NM_138558.2:c.520G>T, NP_054829.2:p.Ala316Ser, NP_002704.1:p.Ala92Ser, NP_612568.1:p.Ala174Ser

Select item 14674119005.

rs1467411900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850203 (GRCh38)
1:28176714 (GRCh37)
Canonical SPDI:: NC_000001.11:27850202:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.27850203C>T, NC_000001.10:g.28176714C>T, NM_014110.5:c.813C>T, NM_014110.4:c.813C>T, NM_002713.4:c.141C>T, NM_002713.3:c.141C>T, NM_138558.3:c.387C>T, NM_138558.2:c.387C>T

Select item 14596827746.

rs1459682774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:27850233 (GRCh38)
1:28176744 (GRCh37)
Canonical SPDI:: NC_000001.11:27850232:C:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27850233C>A, NC_000001.10:g.28176744C>A, NM_014110.5:c.843C>A, NM_014110.4:c.843C>A, NM_002713.4:c.171C>A, NM_002713.3:c.171C>A, NM_138558.3:c.417C>A, NM_138558.2:c.417C>A

Select item 14344109747.

rs1434410974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27850131 (GRCh38)
1:28176642 (GRCh37)
Canonical SPDI:: NC_000001.11:27850130:G:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.27850131G>A, NC_000001.10:g.28176642G>A, NM_014110.5:c.741G>A, NM_014110.4:c.741G>A, NM_002713.4:c.69G>A, NM_002713.3:c.69G>A, NM_138558.3:c.315G>A, NM_138558.2:c.315G>A

Select item 14323477098.

rs1432347709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27847085 (GRCh38)
1:28173596 (GRCh37)
Canonical SPDI:: NC_000001.11:27847084:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27847085C>T, NC_000001.10:g.28173596C>T, NM_014110.5:c.695C>T, NM_014110.4:c.695C>T, NM_002713.4:c.23C>T, NM_002713.3:c.23C>T, NM_138558.3:c.269C>T, NM_138558.2:c.269C>T, NP_054829.2:p.Pro232Leu, NP_002704.1:p.Pro8Leu, NP_612568.1:p.Pro90Leu

Select item 14201721329.

rs1420172132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850361 (GRCh38)
1:28176872 (GRCh37)
Canonical SPDI:: NC_000001.11:27850360:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.27850361C>T, NC_000001.10:g.28176872C>T, NM_014110.5:c.971C>T, NM_014110.4:c.971C>T, NM_002713.4:c.299C>T, NM_002713.3:c.299C>T, NM_138558.3:c.545C>T, NM_138558.2:c.545C>T, NP_054829.2:p.Pro324Leu, NP_002704.1:p.Pro100Leu, NP_612568.1:p.Pro182Leu

Select item 141110600310.

rs1411106003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850136 (GRCh38)
1:28176647 (GRCh37)
Canonical SPDI:: NC_000001.11:27850135:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27850136C>T, NC_000001.10:g.28176647C>T, NM_014110.5:c.746C>T, NM_014110.4:c.746C>T, NM_002713.4:c.74C>T, NM_002713.3:c.74C>T, NM_138558.3:c.320C>T, NM_138558.2:c.320C>T, NP_054829.2:p.Ser249Leu, NP_002704.1:p.Ser25Leu, NP_612568.1:p.Ser107Leu

Select item 140067111511.

rs1400671115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27850247 (GRCh38)
1:28176758 (GRCh37)
Canonical SPDI:: NC_000001.11:27850246:T:C
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27850247T>C, NC_000001.10:g.28176758T>C, NM_014110.5:c.857T>C, NM_014110.4:c.857T>C, NM_002713.4:c.185T>C, NM_002713.3:c.185T>C, NM_138558.3:c.431T>C, NM_138558.2:c.431T>C, NP_054829.2:p.Leu286Pro, NP_002704.1:p.Leu62Pro, NP_612568.1:p.Leu144Pro

Select item 139211080212.

rs1392110802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:27850151 (GRCh38)
1:28176662 (GRCh37)
Canonical SPDI:: NC_000001.11:27850150:T:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27850151T>G, NC_000001.10:g.28176662T>G, NM_014110.5:c.761T>G, NM_014110.4:c.761T>G, NM_002713.4:c.89T>G, NM_002713.3:c.89T>G, NM_138558.3:c.335T>G, NM_138558.2:c.335T>G, NP_054829.2:p.Met254Arg, NP_002704.1:p.Met30Arg, NP_612568.1:p.Met112Arg

Select item 139147508913.

rs1391475089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:27850167 (GRCh38)
1:28176678 (GRCh37)
Canonical SPDI:: NC_000001.11:27850166:C:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.27850167C>A, NC_000001.10:g.28176678C>A, NM_014110.5:c.777C>A, NM_014110.4:c.777C>A, NM_002713.4:c.105C>A, NM_002713.3:c.105C>A, NM_138558.3:c.351C>A, NM_138558.2:c.351C>A, NP_054829.2:p.Phe259Leu, NP_002704.1:p.Phe35Leu, NP_612568.1:p.Phe117Leu

Select item 139141282914.

rs1391412829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:27847080 (GRCh38)
1:28173591 (GRCh37)
Canonical SPDI:: NC_000001.11:27847079:G:A,NC_000001.11:27847079:G:C
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000001.11:g.27847080G>A, NC_000001.11:g.27847080G>C, NC_000001.10:g.28173591G>A, NC_000001.10:g.28173591G>C, NM_014110.5:c.690G>A, NM_014110.5:c.690G>C, NM_014110.4:c.690G>A, NM_014110.4:c.690G>C, NM_002713.4:c.18G>A, NM_002713.4:c.18G>C, NM_002713.3:c.18G>A, NM_002713.3:c.18G>C, NM_138558.3:c.264G>A, NM_138558.3:c.264G>C, NM_138558.2:c.264G>A, NM_138558.2:c.264G>C

Select item 139033427015.

rs1390334270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850112 (GRCh38)
1:28176623 (GRCh37)
Canonical SPDI:: NC_000001.11:27850111:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27850112C>T, NC_000001.10:g.28176623C>T, NM_014110.5:c.722C>T, NM_014110.4:c.722C>T, NM_002713.4:c.50C>T, NM_002713.3:c.50C>T, NM_138558.3:c.296C>T, NM_138558.2:c.296C>T, NP_054829.2:p.Pro241Leu, NP_002704.1:p.Pro17Leu, NP_612568.1:p.Pro99Leu

Select item 138886498116.

rs1388864981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27850366 (GRCh38)
1:28176877 (GRCh37)
Canonical SPDI:: NC_000001.11:27850365:G:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.27850366G>A, NC_000001.10:g.28176877G>A, NM_014110.5:c.976G>A, NM_014110.4:c.976G>A, NM_002713.4:c.304G>A, NM_002713.3:c.304G>A, NM_138558.3:c.550G>A, NM_138558.2:c.550G>A, NP_054829.2:p.Ala326Thr, NP_002704.1:p.Ala102Thr, NP_612568.1:p.Ala184Thr

Select item 138180723017.

rs1381807230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850359 (GRCh38)
1:28176870 (GRCh37)
Canonical SPDI:: NC_000001.11:27850358:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27850359C>T, NC_000001.10:g.28176870C>T, NM_014110.5:c.969C>T, NM_014110.4:c.969C>T, NM_002713.4:c.297C>T, NM_002713.3:c.297C>T, NM_138558.3:c.543C>T, NM_138558.2:c.543C>T

Select item 136761027118.

rs1367610271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850217 (GRCh38)
1:28176728 (GRCh37)
Canonical SPDI:: NC_000001.11:27850216:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.27850217C>T, NC_000001.10:g.28176728C>T, NM_014110.5:c.827C>T, NM_014110.4:c.827C>T, NM_002713.4:c.155C>T, NM_002713.3:c.155C>T, NM_138558.3:c.401C>T, NM_138558.2:c.401C>T, NP_054829.2:p.Ser276Phe, NP_002704.1:p.Ser52Phe, NP_612568.1:p.Ser134Phe

Select item 135914888719.

rs1359148887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27850162 (GRCh38)
1:28176673 (GRCh37)
Canonical SPDI:: NC_000001.11:27850161:G:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27850162G>A, NC_000001.10:g.28176673G>A, NM_014110.5:c.772G>A, NM_014110.4:c.772G>A, NM_002713.4:c.100G>A, NM_002713.3:c.100G>A, NM_138558.3:c.346G>A, NM_138558.2:c.346G>A, NP_054829.2:p.Ala258Thr, NP_002704.1:p.Ala34Thr, NP_612568.1:p.Ala116Thr

Select item 132573469420.

rs1325734694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850119 (GRCh38)
1:28176630 (GRCh37)
Canonical SPDI:: NC_000001.11:27850118:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27850119C>T, NC_000001.10:g.28176630C>T, NM_014110.5:c.729C>T, NM_014110.4:c.729C>T, NM_002713.4:c.57C>T, NM_002713.3:c.57C>T, NM_138558.3:c.303C>T, NM_138558.2:c.303C>T

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