SNP Links for Protein (Select 222537743) - SNP

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Links from Protein

Items: 1 to 20 of 2012

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Select item 14909713871.

rs1490971387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80613642 (GRCh38)
12:81007421 (GRCh37)
Canonical SPDI:: NC_000012.12:80613641:G:A
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80613642G>A, NC_000012.11:g.81007421G>A, NG_034052.1:g.174297G>A, NM_001145026.2:c.4969G>A, NM_001145026.1:c.4969G>A, NP_001138498.1:p.Val1657Ile

Select item 14906059282.

rs1490605928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80495305 (GRCh38)
12:80889084 (GRCh37)
Canonical SPDI:: NC_000012.12:80495304:G:A
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000069/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.80495305G>A, NC_000012.11:g.80889084G>A, NG_034052.1:g.55960G>A, NM_001145026.2:c.1816G>A, NM_001145026.1:c.1816G>A, NP_001138498.1:p.Ala606Thr

Select item 14899348023.

rs1489934802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:80472244 (GRCh38)
12:80866023 (GRCh37)
Canonical SPDI:: NC_000012.12:80472243:A:G,NC_000012.12:80472243:A:T
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.80472244A>G, NC_000012.12:g.80472244A>T, NC_000012.11:g.80866023A>G, NC_000012.11:g.80866023A>T, NG_034052.1:g.32899A>G, NG_034052.1:g.32899A>T, NM_001145026.2:c.1179A>G, NM_001145026.2:c.1179A>T, NM_001145026.1:c.1179A>G, NM_001145026.1:c.1179A>T

Select item 14894246064.

rs1489424606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80495055 (GRCh38)
12:80888834 (GRCh37)
Canonical SPDI:: NC_000012.12:80495054:G:A
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.80495055G>A, NC_000012.11:g.80888834G>A, NG_034052.1:g.55710G>A, NM_001145026.2:c.1663G>A, NM_001145026.1:c.1663G>A, NP_001138498.1:p.Gly555Arg

Select item 14893994665.

rs1489399466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80495278 (GRCh38)
12:80889057 (GRCh37)
Canonical SPDI:: NC_000012.12:80495277:G:A
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.80495278G>A, NC_000012.11:g.80889057G>A, NG_034052.1:g.55933G>A, NM_001145026.2:c.1789G>A, NM_001145026.1:c.1789G>A, NP_001138498.1:p.Gly597Arg

Select item 14892898496.

rs1489289849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:80472154 (GRCh38)
12:80865933 (GRCh37)
Canonical SPDI:: NC_000012.12:80472153:C:T
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80472154C>T, NC_000012.11:g.80865933C>T, NG_034052.1:g.32809C>T, NM_001145026.2:c.1089C>T, NM_001145026.1:c.1089C>T

Select item 14892272037.

rs1489227203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80459475 (GRCh38)
12:80850702 (GRCh37)
Canonical SPDI:: NC_000012.12:80459474:G:A
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.80459475G>A, NC_000012.11:g.80850702C>T, NG_034052.1:g.20130G>A, NM_001145026.2:c.652G>A, NM_001145026.1:c.440+1382C>T, NP_001138498.1:p.Glu218Lys

Select item 14890572098.

rs1489057209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:80619413 (GRCh38)
12:81013192 (GRCh37)
Canonical SPDI:: NC_000012.12:80619412:C:G
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.80619413C>G, NC_000012.11:g.81013192C>G, NG_034052.1:g.180068C>G, NM_001145026.2:c.5260C>G, NM_001145026.1:c.5260C>G, NP_001138498.1:p.Pro1754Ala

Select item 14889854629.

rs1488985462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:80649588 (GRCh38)
12:81043367 (GRCh37)
Canonical SPDI:: NC_000012.12:80649587:G:T
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80649588G>T, NC_000012.11:g.81043367G>T, NG_034052.1:g.210243G>T, NM_001145026.2:c.5943G>T, NM_001145026.1:c.5943G>T, NP_001138498.1:p.Lys1981Asn

Select item 148893535910.

rs1488935359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:80506050 (GRCh38)
12:80899829 (GRCh37)
Canonical SPDI:: NC_000012.12:80506049:A:G
Gene:: PTPRQ (Varview), LOC124902975 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.80506050A>G, NC_000012.11:g.80899829A>G, NG_034052.1:g.66705A>G, NM_001145026.2:c.2299A>G, NM_001145026.1:c.2299A>G, NP_001138498.1:p.Thr767Ala

Select item 148888736011.

rs1488887360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:80619423 (GRCh38)
12:81013202 (GRCh37)
Canonical SPDI:: NC_000012.12:80619422:A:G
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,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_000012.12:g.80619423A>G, NC_000012.11:g.81013202A>G, NG_034052.1:g.180078A>G, NM_001145026.2:c.5270A>G, NM_001145026.1:c.5270A>G, NP_001138498.1:p.Asp1757Gly

Select item 148887431012.

rs1488874310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80620252 (GRCh38)
12:81014031 (GRCh37)
Canonical SPDI:: NC_000012.12:80620251:G:A
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80620252G>A, NC_000012.11:g.81014031G>A, NG_034052.1:g.180907G>A, NM_001145026.2:c.5488G>A, NM_001145026.1:c.5488G>A, NP_001138498.1:p.Glu1830Lys

Select item 148884456013.

rs1488844560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:80634980 (GRCh38)
12:81028759 (GRCh37)
Canonical SPDI:: NC_000012.12:80634979:C:A,NC_000012.12:80634979:C:G
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80634980C>A, NC_000012.12:g.80634980C>G, NC_000012.11:g.81028759C>A, NC_000012.11:g.81028759C>G, NG_034052.1:g.195635C>A, NG_034052.1:g.195635C>G, NM_001145026.2:c.5822C>A, NM_001145026.2:c.5822C>G, NM_001145026.1:c.5822C>A, NM_001145026.1:c.5822C>G, NP_001138498.1:p.Ser1941Tyr, NP_001138498.1:p.Ser1941Cys

Select item 148841993814.

rs1488419938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:80506644 (GRCh38)
12:80900423 (GRCh37)
Canonical SPDI:: NC_000012.12:80506643:C:T
Gene:: PTPRQ (Varview), LOC124902975 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.80506644C>T, NC_000012.11:g.80900423C>T, NG_034052.1:g.67299C>T, NM_001145026.2:c.2531C>T, NM_001145026.1:c.2531C>T, NP_001138498.1:p.Pro844Leu

Select item 148819597115.

rs1488195971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:80669056 (GRCh38)
12:81062835 (GRCh37)
Canonical SPDI:: NC_000012.12:80669055:G:C
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80669056G>C, NC_000012.11:g.81062835G>C, NG_034052.1:g.229711G>C, NM_001145026.2:c.6242G>C, NM_001145026.1:c.6242G>C, NP_001138498.1:p.Gly2081Ala

Select item 148735128716.

rs1487351287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80658051 (GRCh38)
12:81051830 (GRCh37)
Canonical SPDI:: NC_000012.12:80658050:G:A
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000022/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80658051G>A, NC_000012.11:g.81051830G>A, NG_034052.1:g.218706G>A, NM_001145026.2:c.6182G>A, NM_001145026.1:c.6182G>A, NP_001138498.1:p.Ser2061Asn

Select item 148713889617.

rs1487138896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:80534081 (GRCh38)
12:80927860 (GRCh37)
Canonical SPDI:: NC_000012.12:80534080:T:C
Gene:: PTPRQ (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.80534081T>C, NC_000012.11:g.80927860T>C, NG_034052.1:g.94736T>C, NM_001145026.2:c.2745T>C, NM_001145026.1:c.2745T>C

Select item 148702181518.

rs1487021815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:80496460 (GRCh38)
12:80890239 (GRCh37)
Canonical SPDI:: NC_000012.12:80496459:T:G
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80496460T>G, NC_000012.11:g.80890239T>G, NG_034052.1:g.57115T>G, NM_001145026.2:c.2201T>G, NM_001145026.1:c.2201T>G, NP_001138498.1:p.Val734Gly

Select item 148613473019.

rs1486134730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:80496448 (GRCh38)
12:80890227 (GRCh37)
Canonical SPDI:: NC_000012.12:80496447:A:G
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80496448A>G, NC_000012.11:g.80890227A>G, NG_034052.1:g.57103A>G, NM_001145026.2:c.2189A>G, NM_001145026.1:c.2189A>G, NP_001138498.1:p.Tyr730Cys

Select item 148610361320.

rs1486103613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80496340 (GRCh38)
12:80890119 (GRCh37)
Canonical SPDI:: NC_000012.12:80496339:G:A
Gene:: PTPRQ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.80496340G>A, NC_000012.11:g.80890119G>A, NG_034052.1:g.56995G>A, NM_001145026.2:c.2081G>A, NM_001145026.1:c.2081G>A, NP_001138498.1:p.Gly694Glu

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