SNP Links for Protein (Select 4507147) - SNP

Links from Protein

Items: 1 to 20 of 615

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Select item 14899391651.

rs1489939165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53123087 (GRCh38)
12:53516871 (GRCh37)
Canonical SPDI:: NC_000012.12:53123086:G:T
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53123087G>T, NC_000012.11:g.53516871G>T, NM_003578.4:c.1243G>T, NM_003578.3:c.1243G>T, XM_047429672.1:c.1183G>T, XM_047429673.1:c.1075G>T, XM_047429671.1:c.1243G>T, NP_003569.1:p.Gly415Cys, XP_047285628.1:p.Gly395Cys, XP_047285629.1:p.Gly359Cys, XP_047285627.1:p.Gly415Cys

Select item 14874915182.

rs1487491518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53115602 (GRCh38)
12:53509386 (GRCh37)
Canonical SPDI:: NC_000012.12:53115601:C:T
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000012.12:g.53115602C>T, NC_000012.11:g.53509386C>T, NM_003578.4:c.656C>T, NM_003578.3:c.656C>T, XM_047429672.1:c.596C>T, XM_047429673.1:c.488C>T, XM_047429675.1:c.656C>T, XM_047429671.1:c.656C>T, XM_047429674.1:c.656C>T, NP_003569.1:p.Ala219Val, XP_047285628.1:p.Ala199Val, XP_047285629.1:p.Ala163Val, XP_047285631.1:p.Ala219Val, XP_047285627.1:p.Ala219Val, XP_047285630.1:p.Ala219Val

Select item 14861511213.

rs1486151121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53118890 (GRCh38)
12:53512674 (GRCh37)
Canonical SPDI:: NC_000012.12:53118889:G:T
Gene:: SOAT2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.53118890G>T, NC_000012.11:g.53512674G>T, NM_003578.4:c.864G>T, NM_003578.3:c.864G>T, XM_047429672.1:c.804G>T, XM_047429673.1:c.696G>T, XM_047429671.1:c.864G>T, XM_047429674.1:c.864G>T, NP_003569.1:p.Arg288Ser, XP_047285628.1:p.Arg268Ser, XP_047285629.1:p.Arg232Ser, XP_047285627.1:p.Arg288Ser, XP_047285630.1:p.Arg288Ser

Select item 14844499974.

rs1484449997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53123828 (GRCh38)
12:53517612 (GRCh37)
Canonical SPDI:: NC_000012.12:53123827:G:A
Gene:: SOAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53123828G>A, NC_000012.11:g.53517612G>A, NM_003578.4:c.1473G>A, NM_003578.3:c.1473G>A, XM_047429672.1:c.1413G>A, XM_047429673.1:c.1305G>A, XM_047429671.1:c.*76G>A

Select item 14836299475.

rs1483629947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53118396 (GRCh38)
12:53512180 (GRCh37)
Canonical SPDI:: NC_000012.12:53118395:C:T
Gene:: SOAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53118396C>T, NC_000012.11:g.53512180C>T, NM_003578.4:c.825C>T, NM_003578.3:c.825C>T, XM_047429672.1:c.765C>T, XM_047429673.1:c.657C>T, XM_047429675.1:c.*906C>T, XM_047429671.1:c.825C>T, XM_047429674.1:c.825C>T

Select item 14829782956.

rs1482978295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53115447 (GRCh38)
12:53509231 (GRCh37)
Canonical SPDI:: NC_000012.12:53115446:G:C
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53115447G>C, NC_000012.11:g.53509231G>C, NM_003578.4:c.501G>C, NM_003578.3:c.501G>C, XM_047429672.1:c.441G>C, XM_047429673.1:c.333G>C, XM_047429675.1:c.501G>C, XM_047429671.1:c.501G>C, XM_047429674.1:c.501G>C, XR_007063315.1:n.85C>G

Select item 14792695717.

rs1479269571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53116163 (GRCh38)
12:53509947 (GRCh37)
Canonical SPDI:: NC_000012.12:53116162:C:G,NC_000012.12:53116162:C:T
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.53116163C>G, NC_000012.12:g.53116163C>T, NC_000012.11:g.53509947C>G, NC_000012.11:g.53509947C>T, NM_003578.4:c.775C>G, NM_003578.4:c.775C>T, NM_003578.3:c.775C>G, NM_003578.3:c.775C>T, XM_047429672.1:c.715C>G, XM_047429672.1:c.715C>T, XM_047429673.1:c.607C>G, XM_047429673.1:c.607C>T, XM_047429675.1:c.775C>G, XM_047429675.1:c.775C>T, XM_047429671.1:c.775C>G, XM_047429671.1:c.775C>T, XM_047429674.1:c.775C>G, XM_047429674.1:c.775C>T, NP_003569.1:p.Arg259Gly, NP_003569.1:p.Arg259Ter, XP_047285628.1:p.Arg239Gly, XP_047285628.1:p.Arg239Ter, XP_047285629.1:p.Arg203Gly, XP_047285629.1:p.Arg203Ter, XP_047285631.1:p.Arg259Gly, XP_047285631.1:p.Arg259Ter, XP_047285627.1:p.Arg259Gly, XP_047285627.1:p.Arg259Ter, XP_047285630.1:p.Arg259Gly, XP_047285630.1:p.Arg259Ter

Select item 14776062228.

rs1477606222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53124107 (GRCh38)
12:53517891 (GRCh37)
Canonical SPDI:: NC_000012.12:53124106:G:T
Gene:: SOAT2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53124107G>T, NC_000012.11:g.53517891G>T, NM_003578.4:c.1553G>T, NM_003578.3:c.1553G>T, XM_047429672.1:c.1493G>T, XM_047429673.1:c.1385G>T, NP_003569.1:p.Trp518Leu, XP_047285628.1:p.Trp498Leu, XP_047285629.1:p.Trp462Leu

Select item 14766336039.

rs1476633603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53115486 (GRCh38)
12:53509270 (GRCh37)
Canonical SPDI:: NC_000012.12:53115485:G:A
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53115486G>A, NC_000012.11:g.53509270G>A, NM_003578.4:c.540G>A, NM_003578.3:c.540G>A, XM_047429672.1:c.480G>A, XM_047429673.1:c.372G>A, XM_047429675.1:c.540G>A, XM_047429671.1:c.540G>A, XM_047429674.1:c.540G>A, XR_007063315.1:n.46C>T

Select item 147355378210.

rs1473553782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53115392 (GRCh38)
12:53509176 (GRCh37)
Canonical SPDI:: NC_000012.12:53115391:T:G
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53115392T>G, NC_000012.11:g.53509176T>G, NM_003578.4:c.446T>G, NM_003578.3:c.446T>G, XM_047429672.1:c.386T>G, XM_047429673.1:c.278T>G, XM_047429675.1:c.446T>G, XM_047429671.1:c.446T>G, XM_047429674.1:c.446T>G, XR_007063315.1:n.140A>C, NP_003569.1:p.Leu149Arg, XP_047285628.1:p.Leu129Arg, XP_047285629.1:p.Leu93Arg, XP_047285631.1:p.Leu149Arg, XP_047285627.1:p.Leu149Arg, XP_047285630.1:p.Leu149Arg

Select item 147091739811.

rs1470917398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53105931 (GRCh38)
12:53499715 (GRCh37)
Canonical SPDI:: NC_000012.12:53105930:C:T
Gene:: SOAT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53105931C>T, NC_000012.11:g.53499715C>T, NM_003578.4:c.360C>T, NM_003578.3:c.360C>T, XM_047429672.1:c.300C>T, XM_047429675.1:c.360C>T, XM_047429671.1:c.360C>T, XM_047429674.1:c.360C>T

Select item 146987135912.

rs1469871359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53106002 (GRCh38)
12:53499786 (GRCh37)
Canonical SPDI:: NC_000012.12:53106001:T:C
Gene:: SOAT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53106002T>C, NC_000012.11:g.53499786T>C, NM_003578.4:c.431T>C, NM_003578.3:c.431T>C, XM_047429672.1:c.371T>C, XM_047429675.1:c.431T>C, XM_047429671.1:c.431T>C, XM_047429674.1:c.431T>C, NP_003569.1:p.Ile144Thr, XP_047285628.1:p.Ile124Thr, XP_047285631.1:p.Ile144Thr, XP_047285627.1:p.Ile144Thr, XP_047285630.1:p.Ile144Thr

Select item 146905949213.

rs1469059492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53105228 (GRCh38)
12:53499012 (GRCh37)
Canonical SPDI:: NC_000012.12:53105227:C:T
Gene:: SOAT2 (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_000012.12:g.53105228C>T, NC_000012.11:g.53499012C>T, NM_003578.4:c.260C>T, NM_003578.3:c.260C>T, XM_047429672.1:c.260C>T, XM_047429673.1:c.260C>T, XM_047429675.1:c.260C>T, XM_047429671.1:c.260C>T, XM_047429674.1:c.260C>T, NP_003569.1:p.Pro87Leu, XP_047285628.1:p.Pro87Leu, XP_047285629.1:p.Pro87Leu, XP_047285631.1:p.Pro87Leu, XP_047285627.1:p.Pro87Leu, XP_047285630.1:p.Pro87Leu

Select item 146404505514.

rs1464045055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53115561 (GRCh38)
12:53509345 (GRCh37)
Canonical SPDI:: NC_000012.12:53115560:C:T
Gene:: SOAT2 (Varview), LOC124902936 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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_000012.12:g.53115561C>T, NC_000012.11:g.53509345C>T, NM_003578.4:c.615C>T, NM_003578.3:c.615C>T, XM_047429672.1:c.555C>T, XM_047429673.1:c.447C>T, XM_047429675.1:c.615C>T, XM_047429671.1:c.615C>T, XM_047429674.1:c.615C>T

Select item 146316974915.

rs1463169749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53123182 (GRCh38)
12:53516966 (GRCh37)
Canonical SPDI:: NC_000012.12:53123181:T:C
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53123182T>C, NC_000012.11:g.53516966T>C, NM_003578.4:c.1338T>C, NM_003578.3:c.1338T>C, XM_047429672.1:c.1278T>C, XM_047429673.1:c.1170T>C, XM_047429671.1:c.1338T>C

Select item 146219994416.

rs1462199944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53105971 (GRCh38)
12:53499755 (GRCh37)
Canonical SPDI:: NC_000012.12:53105970:T:C
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53105971T>C, NC_000012.11:g.53499755T>C, NM_003578.4:c.400T>C, NM_003578.3:c.400T>C, XM_047429672.1:c.340T>C, XM_047429675.1:c.400T>C, XM_047429671.1:c.400T>C, XM_047429674.1:c.400T>C, NP_003569.1:p.Phe134Leu, XP_047285628.1:p.Phe114Leu, XP_047285631.1:p.Phe134Leu, XP_047285627.1:p.Phe134Leu, XP_047285630.1:p.Phe134Leu

Select item 146183839817.

rs1461838398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53123211 (GRCh38)
12:53516995 (GRCh37)
Canonical SPDI:: NC_000012.12:53123210:T:C
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.53123211T>C, NC_000012.11:g.53516995T>C, NM_003578.4:c.1367T>C, NM_003578.3:c.1367T>C, XM_047429672.1:c.1307T>C, XM_047429673.1:c.1199T>C, XM_047429671.1:c.1367T>C, NP_003569.1:p.Ile456Thr, XP_047285628.1:p.Ile436Thr, XP_047285629.1:p.Ile400Thr, XP_047285627.1:p.Ile456Thr

Select item 146065011618.

rs1460650116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53123156 (GRCh38)
12:53516940 (GRCh37)
Canonical SPDI:: NC_000012.12:53123155:T:G
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53123156T>G, NC_000012.11:g.53516940T>G, NM_003578.4:c.1312T>G, NM_003578.3:c.1312T>G, XM_047429672.1:c.1252T>G, XM_047429673.1:c.1144T>G, XM_047429671.1:c.1312T>G, NP_003569.1:p.Phe438Val, XP_047285628.1:p.Phe418Val, XP_047285629.1:p.Phe382Val, XP_047285627.1:p.Phe438Val

Select item 145885838019.

rs1458858380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53123779 (GRCh38)
12:53517563 (GRCh37)
Canonical SPDI:: NC_000012.12:53123778:T:C
Gene:: SOAT2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53123779T>C, NC_000012.11:g.53517563T>C, NM_003578.4:c.1424T>C, NM_003578.3:c.1424T>C, XM_047429672.1:c.1364T>C, XM_047429673.1:c.1256T>C, XM_047429671.1:c.*27T>C, NP_003569.1:p.Val475Ala, XP_047285628.1:p.Val455Ala, XP_047285629.1:p.Val419Ala

Select item 145600118020.

rs1456001180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53105924 (GRCh38)
12:53499708 (GRCh37)
Canonical SPDI:: NC_000012.12:53105923:A:G
Gene:: SOAT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53105924A>G, NC_000012.11:g.53499708A>G, NM_003578.4:c.353A>G, NM_003578.3:c.353A>G, XM_047429672.1:c.293A>G, XM_047429675.1:c.353A>G, XM_047429671.1:c.353A>G, XM_047429674.1:c.353A>G, NP_003569.1:p.Gln118Arg, XP_047285628.1:p.Gln98Arg, XP_047285631.1:p.Gln118Arg, XP_047285627.1:p.Gln118Arg, XP_047285630.1:p.Gln118Arg

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