SNP Links for Protein (Select 42789380) - SNP

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Links from Protein

Items: 1 to 20 of 170

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Select item 14874180601.

rs1487418060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150624875 (GRCh38)
3:150342662 (GRCh37)
Canonical SPDI:: NC_000003.12:150624874:G:A
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150624875G>A, NC_000003.11:g.150342662G>A, NM_016275.5:c.439G>A, NM_016275.4:c.439G>A, NM_016275.3:c.439G>A, NP_057359.2:p.Gly147Ser

Select item 14738869952.

rs1473886995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:150623145 (GRCh38)
3:150340932 (GRCh37)
Canonical SPDI:: NC_000003.12:150623144:C:G,NC_000003.12:150623144:C:T
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150623145C>G, NC_000003.12:g.150623145C>T, NC_000003.11:g.150340932C>G, NC_000003.11:g.150340932C>T, NM_016275.5:c.351C>G, NM_016275.5:c.351C>T, NM_016275.4:c.351C>G, NM_016275.4:c.351C>T, NM_016275.3:c.351C>G, NM_016275.3:c.351C>T, NP_057359.2:p.Ile117Met

Select item 14700528233.

rs1470052823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:150624835 (GRCh38)
3:150342622 (GRCh37)
Canonical SPDI:: NC_000003.12:150624834:C:A
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150624835C>A, NC_000003.11:g.150342622C>A, NM_016275.5:c.399C>A, NM_016275.4:c.399C>A, NM_016275.3:c.399C>A, NP_057359.2:p.Phe133Leu

Select item 14640087154.

rs1464008715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150623155 (GRCh38)
3:150340942 (GRCh37)
Canonical SPDI:: NC_000003.12:150623154:G:A
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150623155G>A, NC_000003.11:g.150340942G>A, NM_016275.5:c.361G>A, NM_016275.4:c.361G>A, NM_016275.3:c.361G>A, NP_057359.2:p.Gly121Ser

Select item 14587601575.

rs1458760157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:150627110 (GRCh38)
3:150344897 (GRCh37)
Canonical SPDI:: NC_000003.12:150627109:T:G
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.150627110T>G, NC_000003.11:g.150344897T>G, NM_016275.5:c.564T>G, NM_016275.4:c.564T>G, NM_016275.3:c.564T>G, NP_057359.2:p.Asp188Glu

Select item 14520904846.

rs1452090484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:150627011 (GRCh38)
3:150344798 (GRCh37)
Canonical SPDI:: NC_000003.12:150627010:T:A
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150627011T>A, NC_000003.11:g.150344798T>A, NM_016275.5:c.465T>A, NM_016275.4:c.465T>A, NM_016275.3:c.465T>A, NP_057359.2:p.Asp155Glu

Select item 14424205827.

rs1442420582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:150603450 (GRCh38)
3:150321237 (GRCh37)
Canonical SPDI:: NC_000003.12:150603449:A:C
Gene:: SELENOT (Varview), LOC124900547 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150603450A>C, NC_000003.11:g.150321237A>C, NM_016275.5:c.88A>C, NM_016275.4:c.88A>C, NM_016275.3:c.88A>C

Select item 14398986408.

rs1439898640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:150623074 (GRCh38)
3:150340861 (GRCh37)
Canonical SPDI:: NC_000003.12:150623073:C:G
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.150623074C>G, NC_000003.11:g.150340861C>G, NM_016275.5:c.280C>G, NM_016275.4:c.280C>G, NM_016275.3:c.280C>G, NP_057359.2:p.Leu94Val

Select item 14337323169.

rs1433732316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150603395 (GRCh38)
3:150321182 (GRCh37)
Canonical SPDI:: NC_000003.12:150603394:G:A
Gene:: SELENOT (Varview), LOC124900547 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.150603395G>A, NC_000003.11:g.150321182G>A, NM_016275.5:c.33G>A, NM_016275.4:c.33G>A, NM_016275.3:c.33G>A

Select item 143049266710.

rs1430492667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150603372 (GRCh38)
3:150321159 (GRCh37)
Canonical SPDI:: NC_000003.12:150603371:C:T
Gene:: SELENOT (Varview), LOC124900547 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150603372C>T, NC_000003.11:g.150321159C>T, NM_016275.5:c.10C>T, NM_016275.4:c.10C>T, NM_016275.3:c.10C>T

Select item 142927788411.

rs1429277884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150622398 (GRCh38)
3:150340185 (GRCh37)
Canonical SPDI:: NC_000003.12:150622397:T:C
Gene:: SELENOT (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_000003.12:g.150622398T>C, NC_000003.11:g.150340185T>C, NM_016275.5:c.151T>C, NM_016275.4:c.151T>C, NM_016275.3:c.151T>C, NP_057359.2:p.Tyr51His

Select item 142595894012.

rs1425958940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:150622469 (GRCh38)
3:150340256 (GRCh37)
Canonical SPDI:: NC_000003.12:150622468:G:A,NC_000003.12:150622468:G:C,NC_000003.12:150622468:G:T
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.150622469G>A, NC_000003.12:g.150622469G>C, NC_000003.12:g.150622469G>T, NC_000003.11:g.150340256G>A, NC_000003.11:g.150340256G>C, NC_000003.11:g.150340256G>T, NM_016275.5:c.222G>A, NM_016275.5:c.222G>C, NM_016275.5:c.222G>T, NM_016275.4:c.222G>A, NM_016275.4:c.222G>C, NM_016275.4:c.222G>T, NM_016275.3:c.222G>A, NM_016275.3:c.222G>C, NM_016275.3:c.222G>T, NP_057359.2:p.Glu74Asp, NP_057359.2:p.Glu74Asp

Select item 142244828213.

rs1422448282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:150623053 (GRCh38)
3:150340840 (GRCh37)
Canonical SPDI:: NC_000003.12:150623052:T:G
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150623053T>G, NC_000003.11:g.150340840T>G, NM_016275.5:c.259T>G, NM_016275.4:c.259T>G, NM_016275.3:c.259T>G, NP_057359.2:p.Ser87Ala

Select item 141846663914.

rs1418466639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150623153 (GRCh38)
3:150340940 (GRCh37)
Canonical SPDI:: NC_000003.12:150623152:G:A
Gene:: SELENOT (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150623153G>A, NC_000003.11:g.150340940G>A, NM_016275.5:c.359G>A, NM_016275.4:c.359G>A, NM_016275.3:c.359G>A, NP_057359.2:p.Trp120Ter

Select item 141219096315.

rs1412190963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150624837 (GRCh38)
3:150342624 (GRCh37)
Canonical SPDI:: NC_000003.12:150624836:T:C
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.150624837T>C, NC_000003.11:g.150342624T>C, NM_016275.5:c.401T>C, NM_016275.4:c.401T>C, NM_016275.3:c.401T>C, NP_057359.2:p.Phe134Ser

Select item 141209327716.

rs1412093277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:150622473 (GRCh38)
3:150340260 (GRCh37)
Canonical SPDI:: NC_000003.12:150622472:T:G
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.150622473T>G, NC_000003.11:g.150340260T>G, NM_016275.5:c.226T>G, NM_016275.4:c.226T>G, NM_016275.3:c.226T>G, NP_057359.2:p.Tyr76Asp

Select item 141136267917.

rs1411362679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:150623056 (GRCh38)
3:150340843 (GRCh37)
Canonical SPDI:: NC_000003.12:150623055:T:C,NC_000003.12:150623055:T:G
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.150623056T>C, NC_000003.12:g.150623056T>G, NC_000003.11:g.150340843T>C, NC_000003.11:g.150340843T>G, NM_016275.5:c.262T>C, NM_016275.5:c.262T>G, NM_016275.4:c.262T>C, NM_016275.4:c.262T>G, NM_016275.3:c.262T>C, NM_016275.3:c.262T>G, NP_057359.2:p.Phe88Leu, NP_057359.2:p.Phe88Val

Select item 141063145018.

rs1410631450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:150623092 (GRCh38)
3:150340879 (GRCh37)
Canonical SPDI:: NC_000003.12:150623091:A:G
Gene:: SELENOT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.150623092A>G, NC_000003.11:g.150340879A>G, NM_016275.5:c.298A>G, NM_016275.4:c.298A>G, NM_016275.3:c.298A>G, NP_057359.2:p.Ile100Val

Select item 140694640119.

rs1406946401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:150623061 (GRCh38)
3:150340848 (GRCh37)
Canonical SPDI:: NC_000003.12:150623060:G:T
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150623061G>T, NC_000003.11:g.150340848G>T, NM_016275.5:c.267G>T, NM_016275.4:c.267G>T, NM_016275.3:c.267G>T

Select item 140044298420.

rs1400442984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:150622419 (GRCh38)
3:150340206 (GRCh37)
Canonical SPDI:: NC_000003.12:150622418:T:G
Gene:: SELENOT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0011/2 (Korea1K)
HGVS:: NC_000003.12:g.150622419T>G, NC_000003.11:g.150340206T>G, NM_016275.5:c.172T>G, NM_016275.4:c.172T>G, NM_016275.3:c.172T>G, NP_057359.2:p.Tyr58Asp