SNP Links for Protein (Select 4885559) - SNP

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Links from Protein

Items: 1 to 20 of 307

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Select item 14899366661.

rs1489936666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:91630314 (GRCh38)
10:93390071 (GRCh37)
Canonical SPDI:: NC_000010.11:91630313:A:C,NC_000010.11:91630313:A:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630314A>C, NC_000010.11:g.91630314A>G, NC_000010.10:g.93390071A>C, NC_000010.10:g.93390071A>G, NG_051567.1:g.7788T>G, NG_051567.1:g.7788T>C, NM_005398.7:c.567T>G, NM_005398.7:c.567T>C, NM_005398.6:c.567T>G, NM_005398.6:c.567T>C, NM_005398.5:c.567T>G, NM_005398.5:c.567T>C

Select item 14855035452.

rs1485503545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:91630022 (GRCh38)
10:93389779 (GRCh37)
Canonical SPDI:: NC_000010.11:91630021:C:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.91630022C>G, NC_000010.10:g.93389779C>G, NG_051567.1:g.8080G>C, NM_005398.7:c.859G>C, NM_005398.6:c.859G>C, NM_005398.5:c.859G>C, NP_005389.1:p.Glu287Gln

Select item 14838994233.

rs1483899423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:91630213 (GRCh38)
10:93389970 (GRCh37)
Canonical SPDI:: NC_000010.11:91630212:G:T
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91630213G>T, NC_000010.10:g.93389970G>T, NG_051567.1:g.7889C>A, NM_005398.7:c.668C>A, NM_005398.6:c.668C>A, NM_005398.5:c.668C>A, NP_005389.1:p.Pro223His

Select item 14795601194.

rs1479560119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:91630224 (GRCh38)
10:93389981 (GRCh37)
Canonical SPDI:: NC_000010.11:91630223:G:A
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630224G>A, NC_000010.10:g.93389981G>A, NG_051567.1:g.7878C>T, NM_005398.7:c.657C>T, NM_005398.6:c.657C>T, NM_005398.5:c.657C>T

Select item 14793780315.

rs1479378031 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:91630799 (GRCh38)
10:93390556 (GRCh37)
Canonical SPDI:: NC_000010.11:91630798:G:
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630799del, NC_000010.10:g.93390556del, NG_051567.1:g.7303del, NM_005398.7:c.82del, NM_005398.6:c.82del, NM_005398.5:c.82del, NP_005389.1:p.Leu28fs

Select item 14762259716.

rs1476225971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:91630504 (GRCh38)
10:93390261 (GRCh37)
Canonical SPDI:: NC_000010.11:91630503:A:C
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630504A>C, NC_000010.10:g.93390261A>C, NG_051567.1:g.7598T>G, NM_005398.7:c.377T>G, NM_005398.6:c.377T>G, NM_005398.5:c.377T>G, NP_005389.1:p.Leu126Ter

Select item 14712150417.

rs1471215041 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:91630329 (GRCh38)
10:93390086 (GRCh37)
Canonical SPDI:: NC_000010.11:91630328:AA:A
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630330del, NC_000010.10:g.93390087del, NG_051567.1:g.7773del, NM_005398.7:c.552del, NM_005398.6:c.552del, NM_005398.5:c.552del, NP_005389.1:p.Gln185fs

Select item 14687719768.

rs1468771976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:91630577 (GRCh38)
10:93390334 (GRCh37)
Canonical SPDI:: NC_000010.11:91630576:A:C,NC_000010.11:91630576:A:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91630577A>C, NC_000010.11:g.91630577A>G, NC_000010.10:g.93390334A>C, NC_000010.10:g.93390334A>G, NG_051567.1:g.7525T>G, NG_051567.1:g.7525T>C, NM_005398.7:c.304T>G, NM_005398.7:c.304T>C, NM_005398.6:c.304T>G, NM_005398.6:c.304T>C, NM_005398.5:c.304T>G, NM_005398.5:c.304T>C, NP_005389.1:p.Ser102Ala, NP_005389.1:p.Ser102Pro

Select item 14683179909.

rs1468317990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:91630120 (GRCh38)
10:93389877 (GRCh37)
Canonical SPDI:: NC_000010.11:91630119:T:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630120T>G, NC_000010.10:g.93389877T>G, NG_051567.1:g.7982A>C, NM_005398.7:c.761A>C, NM_005398.6:c.761A>C, NM_005398.5:c.761A>C, NP_005389.1:p.Tyr254Ser

Select item 146579334110.

rs1465793341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:91630190 (GRCh38)
10:93389947 (GRCh37)
Canonical SPDI:: NC_000010.11:91630189:T:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630190T>G, NC_000010.10:g.93389947T>G, NG_051567.1:g.7912A>C, NM_005398.7:c.691A>C, NM_005398.6:c.691A>C, NM_005398.5:c.691A>C, NP_005389.1:p.Lys231Gln

Select item 146503582711.

rs1465035827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:91630052 (GRCh38)
10:93389809 (GRCh37)
Canonical SPDI:: NC_000010.11:91630051:A:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.91630052A>G, NC_000010.10:g.93389809A>G, NG_051567.1:g.8050T>C, NM_005398.7:c.829T>C, NM_005398.6:c.829T>C, NM_005398.5:c.829T>C, NP_005389.1:p.Phe277Leu

Select item 145814302912.

rs1458143029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:91630671 (GRCh38)
10:93390428 (GRCh37)
Canonical SPDI:: NC_000010.11:91630670:T:C
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.91630671T>C, NC_000010.10:g.93390428T>C, NG_051567.1:g.7431A>G, NM_005398.7:c.210A>G, NM_005398.6:c.210A>G, NM_005398.5:c.210A>G

Select item 145768334713.

rs1457683347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:91630107 (GRCh38)
10:93389864 (GRCh37)
Canonical SPDI:: NC_000010.11:91630106:A:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.91630107A>G, NC_000010.10:g.93389864A>G, NG_051567.1:g.7995T>C, NM_005398.7:c.774T>C, NM_005398.6:c.774T>C, NM_005398.5:c.774T>C

Select item 145369032814.

rs1453690328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:91630238 (GRCh38)
10:93389995 (GRCh37)
Canonical SPDI:: NC_000010.11:91630237:T:A
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91630238T>A, NC_000010.10:g.93389995T>A, NG_051567.1:g.7864A>T, NM_005398.7:c.643A>T, NM_005398.6:c.643A>T, NM_005398.5:c.643A>T, NP_005389.1:p.Thr215Ser

Select item 145253395715.

rs1452533957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:91630530 (GRCh38)
10:93390287 (GRCh37)
Canonical SPDI:: NC_000010.11:91630529:C:T
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630530C>T, NC_000010.10:g.93390287C>T, NG_051567.1:g.7572G>A, NM_005398.7:c.351G>A, NM_005398.6:c.351G>A, NM_005398.5:c.351G>A

Select item 145045602416.

rs1450456024 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:91630049 (GRCh38)
10:93389806 (GRCh37)
Canonical SPDI:: NC_000010.11:91630048:GG:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630050del, NC_000010.10:g.93389807del, NG_051567.1:g.8053del, NM_005398.7:c.832del, NM_005398.6:c.832del, NM_005398.5:c.832del, NP_005389.1:p.His278fs

Select item 144693863917.

rs1446938639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:91630816 (GRCh38)
10:93390573 (GRCh37)
Canonical SPDI:: NC_000010.11:91630815:A:G
Gene:: PPP1R3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91630816A>G, NC_000010.10:g.93390573A>G, NG_051567.1:g.7286T>C, NM_005398.7:c.65T>C, NM_005398.6:c.65T>C, NM_005398.5:c.65T>C, NP_005389.1:p.Val22Ala

Select item 144266574518.

rs1442665745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:91630493 (GRCh38)
10:93390250 (GRCh37)
Canonical SPDI:: NC_000010.11:91630492:C:T
Gene:: PPP1R3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000149/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.91630493C>T, NC_000010.10:g.93390250C>T, NG_051567.1:g.7609G>A, NM_005398.7:c.388G>A, NM_005398.6:c.388G>A, NM_005398.5:c.388G>A, NP_005389.1:p.Glu130Lys

Select item 144114930819.

rs1441149308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:91630187 (GRCh38)
10:93389944 (GRCh37)
Canonical SPDI:: NC_000010.11:91630186:T:C
Gene:: PPP1R3C (Varview)
Functional Consequence:: missense_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_000010.11:g.91630187T>C, NC_000010.10:g.93389944T>C, NG_051567.1:g.7915A>G, NM_005398.7:c.694A>G, NM_005398.6:c.694A>G, NM_005398.5:c.694A>G, NP_005389.1:p.Ile232Val

Select item 143461922320.

rs1434619223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:91630030 (GRCh38)
10:93389787 (GRCh37)
Canonical SPDI:: NC_000010.11:91630029:G:A
Gene:: PPP1R3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.91630030G>A, NC_000010.10:g.93389787G>A, NG_051567.1:g.8072C>T, NM_005398.7:c.851C>T, NM_005398.6:c.851C>T, NM_005398.5:c.851C>T, NP_005389.1:p.Thr284Ile

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