SNP Links for Protein (Select 1239290914) - SNP

Links from Protein

Items: 1 to 20 of 108

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Select item 14891668161.

rs1489166816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134200478 (GRCh38)
5:133536169 (GRCh37)
Canonical SPDI:: NC_000005.10:134200477:G:A
Gene:: PPP2CA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134200478G>A, NC_000005.9:g.133536169G>A, NG_046997.1:g.30782C>T, NM_002715.4:c.595C>T, NM_002715.3:c.595C>T, NM_002715.2:c.595C>T, NR_149151.2:n.850C>T, NR_149151.1:n.850C>T, NM_001355019.2:c.400C>T, NM_001355019.1:c.400C>T

Select item 14778555092.

rs1477855509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134199101 (GRCh38)
5:133534792 (GRCh37)
Canonical SPDI:: NC_000005.10:134199100:G:A
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134199101G>A, NC_000005.9:g.133534792G>A, NG_046997.1:g.32159C>T, NM_002715.4:c.842C>T, NM_002715.3:c.842C>T, NM_002715.2:c.842C>T, NR_149151.2:n.1097C>T, NR_149151.1:n.1097C>T, NM_001355019.2:c.647C>T, NM_001355019.1:c.647C>T, NP_002706.1:p.Thr281Ile, NP_001341948.1:p.Thr216Ile

Select item 14500816003.

rs1450081600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134205946 (GRCh38)
5:133541637 (GRCh37)
Canonical SPDI:: NC_000005.10:134205945:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134205946T>C, NC_000005.9:g.133541637T>C, NG_046997.1:g.25314A>G, NM_002715.4:c.288A>G, NM_002715.3:c.288A>G, NM_002715.2:c.288A>G, NR_149151.2:n.532A>G, NR_149151.1:n.532A>G, NM_001355019.2:c.93A>G, NM_001355019.1:c.93A>G

Select item 14470053114.

rs1447005311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:134197775 (GRCh38)
5:133533466 (GRCh37)
Canonical SPDI:: NC_000005.10:134197774:C:T
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134197775C>T, NC_000005.9:g.133533466C>T, NG_046997.1:g.33485G>A, NM_002715.4:c.927G>A, NM_002715.3:c.927G>A, NM_002715.2:c.927G>A, NR_149151.2:n.1182G>A, NR_149151.1:n.1182G>A, NM_001355019.2:c.732G>A, NM_001355019.1:c.732G>A

Select item 14437721275.

rs1443772127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134206003 (GRCh38)
5:133541694 (GRCh37)
Canonical SPDI:: NC_000005.10:134206002:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.134206003A>G, NC_000005.9:g.133541694A>G, NG_046997.1:g.25257T>C, NM_002715.4:c.231T>C, NM_002715.3:c.231T>C, NM_002715.2:c.231T>C, NR_149151.2:n.475T>C, NR_149151.1:n.475T>C, NM_001355019.2:c.36T>C, NM_001355019.1:c.36T>C

Select item 14429069706.

rs1442906970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134201899 (GRCh38)
5:133537590 (GRCh37)
Canonical SPDI:: NC_000005.10:134201898:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.134201899A>G, NC_000005.9:g.133537590A>G, NG_046997.1:g.29361T>C, NM_002715.4:c.435T>C, NM_002715.3:c.435T>C, NM_002715.2:c.435T>C, NR_149151.2:n.679T>C, NR_149151.1:n.679T>C, NM_001355019.2:c.240T>C, NM_001355019.1:c.240T>C

Select item 14172133707.

rs1417213370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134201003 (GRCh38)
5:133536694 (GRCh37)
Canonical SPDI:: NC_000005.10:134201002:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.134201003T>C, NC_000005.9:g.133536694T>C, NG_046997.1:g.30257A>G, NM_002715.4:c.558A>G, NM_002715.3:c.558A>G, NM_002715.2:c.558A>G, NR_149151.2:n.802A>G, NR_149151.1:n.802A>G, NM_001355019.2:c.363A>G, NM_001355019.1:c.363A>G

Select item 14024033278.

rs1402403327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134201878 (GRCh38)
5:133537569 (GRCh37)
Canonical SPDI:: NC_000005.10:134201877:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134201878A>G, NC_000005.9:g.133537569A>G, NG_046997.1:g.29382T>C, NM_002715.4:c.456T>C, NM_002715.3:c.456T>C, NM_002715.2:c.456T>C, NR_149151.2:n.700T>C, NR_149151.1:n.700T>C, NM_001355019.2:c.261T>C, NM_001355019.1:c.261T>C

Select item 14013841939.

rs1401384193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134201024 (GRCh38)
5:133536715 (GRCh37)
Canonical SPDI:: NC_000005.10:134201023:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000005.10:g.134201024A>G, NC_000005.9:g.133536715A>G, NG_046997.1:g.30236T>C, NM_002715.4:c.537T>C, NM_002715.3:c.537T>C, NM_002715.2:c.537T>C, NR_149151.2:n.781T>C, NR_149151.1:n.781T>C, NM_001355019.2:c.342T>C, NM_001355019.1:c.342T>C

Select item 140119415210.

rs1401194152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134199160 (GRCh38)
5:133534851 (GRCh37)
Canonical SPDI:: NC_000005.10:134199159:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134199160A>G, NC_000005.9:g.133534851A>G, NG_046997.1:g.32100T>C, NM_002715.4:c.783T>C, NM_002715.3:c.783T>C, NM_002715.2:c.783T>C, NR_149151.2:n.1038T>C, NR_149151.1:n.1038T>C, NM_001355019.2:c.588T>C, NM_001355019.1:c.588T>C

Select item 139707773511.

rs1397077735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134201057 (GRCh38)
5:133536748 (GRCh37)
Canonical SPDI:: NC_000005.10:134201056:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134201057A>G, NC_000005.9:g.133536748A>G, NG_046997.1:g.30203T>C, NM_002715.4:c.504T>C, NM_002715.3:c.504T>C, NM_002715.2:c.504T>C, NR_149151.2:n.748T>C, NR_149151.1:n.748T>C, NM_001355019.2:c.309T>C, NM_001355019.1:c.309T>C

Select item 139559325312.

rs1395593253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134206012 (GRCh38)
5:133541703 (GRCh37)
Canonical SPDI:: NC_000005.10:134206011:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.134206012T>C, NC_000005.9:g.133541703T>C, NG_046997.1:g.25248A>G, NM_002715.4:c.222A>G, NM_002715.3:c.222A>G, NM_002715.2:c.222A>G, NR_149151.2:n.466A>G, NR_149151.1:n.466A>G, NM_001355019.2:c.27A>G, NM_001355019.1:c.27A>G

Select item 139149936113.

rs1391499361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134205976 (GRCh38)
5:133541667 (GRCh37)
Canonical SPDI:: NC_000005.10:134205975:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.134205976A>G, NC_000005.9:g.133541667A>G, NG_046997.1:g.25284T>C, NM_002715.4:c.258T>C, NM_002715.3:c.258T>C, NM_002715.2:c.258T>C, NR_149151.2:n.502T>C, NR_149151.1:n.502T>C, NM_001355019.2:c.63T>C, NM_001355019.1:c.63T>C

Select item 138182349214.

rs1381823492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:134201051 (GRCh38)
5:133536742 (GRCh37)
Canonical SPDI:: NC_000005.10:134201050:G:A,NC_000005.10:134201050:G:C
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134201051G>A, NC_000005.10:g.134201051G>C, NC_000005.9:g.133536742G>A, NC_000005.9:g.133536742G>C, NG_046997.1:g.30209C>T, NG_046997.1:g.30209C>G, NM_002715.4:c.510C>T, NM_002715.4:c.510C>G, NM_002715.3:c.510C>T, NM_002715.3:c.510C>G, NM_002715.2:c.510C>T, NM_002715.2:c.510C>G, NR_149151.2:n.754C>T, NR_149151.2:n.754C>G, NR_149151.1:n.754C>T, NR_149151.1:n.754C>G, NM_001355019.2:c.315C>T, NM_001355019.2:c.315C>G, NM_001355019.1:c.315C>T, NM_001355019.1:c.315C>G

Select item 137348394215.

rs1373483942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:134201853 (GRCh38)
5:133537544 (GRCh37)
Canonical SPDI:: NC_000005.10:134201852:C:G
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134201853C>G, NC_000005.9:g.133537544C>G, NG_046997.1:g.29407G>C, NM_002715.4:c.481G>C, NM_002715.3:c.481G>C, NM_002715.2:c.481G>C, NR_149151.2:n.725G>C, NR_149151.1:n.725G>C, NM_001355019.2:c.286G>C, NM_001355019.1:c.286G>C, NP_002706.1:p.Gly161Arg, NP_001341948.1:p.Gly96Arg

Select item 137150248216.

rs1371502482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134200378 (GRCh38)
5:133536069 (GRCh37)
Canonical SPDI:: NC_000005.10:134200377:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.134200378T>C, NC_000005.9:g.133536069T>C, NG_046997.1:g.30882A>G, NM_002715.4:c.695A>G, NM_002715.3:c.695A>G, NM_002715.2:c.695A>G, NR_149151.2:n.950A>G, NR_149151.1:n.950A>G, NM_001355019.2:c.500A>G, NM_001355019.1:c.500A>G, NP_002706.1:p.Asn232Ser, NP_001341948.1:p.Asn167Ser

Select item 136397174217.

rs1363971742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134197787 (GRCh38)
5:133533478 (GRCh37)
Canonical SPDI:: NC_000005.10:134197786:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.134197787T>C, NC_000005.9:g.133533478T>C, NG_046997.1:g.33473A>G, NM_002715.4:c.915A>G, NM_002715.3:c.915A>G, NM_002715.2:c.915A>G, NR_149151.2:n.1170A>G, NR_149151.1:n.1170A>G, NM_001355019.2:c.720A>G, NM_001355019.1:c.720A>G

Select item 135563983118.

rs1355639831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134197819 (GRCh38)
5:133533510 (GRCh37)
Canonical SPDI:: NC_000005.10:134197818:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (Korea1K)
HGVS:: NC_000005.10:g.134197819T>C, NC_000005.9:g.133533510T>C, NG_046997.1:g.33441A>G, NM_002715.4:c.883A>G, NM_002715.3:c.883A>G, NM_002715.2:c.883A>G, NR_149151.2:n.1138A>G, NR_149151.1:n.1138A>G, NM_001355019.2:c.688A>G, NM_001355019.1:c.688A>G, NP_002706.1:p.Arg295Gly, NP_001341948.1:p.Arg230Gly

Select item 134224914019.

rs1342249140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134200383 (GRCh38)
5:133536074 (GRCh37)
Canonical SPDI:: NC_000005.10:134200382:A:G
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.134200383A>G, NC_000005.9:g.133536074A>G, NG_046997.1:g.30877T>C, NM_002715.4:c.690T>C, NM_002715.3:c.690T>C, NM_002715.2:c.690T>C, NR_149151.2:n.945T>C, NR_149151.1:n.945T>C, NM_001355019.2:c.495T>C, NM_001355019.1:c.495T>C

Select item 133930480820.

rs1339304808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134201902 (GRCh38)
5:133537593 (GRCh37)
Canonical SPDI:: NC_000005.10:134201901:T:C
Gene:: PPP2CA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134201902T>C, NC_000005.9:g.133537593T>C, NG_046997.1:g.29358A>G, NM_002715.4:c.432A>G, NM_002715.3:c.432A>G, NM_002715.2:c.432A>G, NR_149151.2:n.676A>G, NR_149151.1:n.676A>G, NM_001355019.2:c.237A>G, NM_001355019.1:c.237A>G

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