SNP Links for Protein (Select 40254921) - SNP

Links from Protein

Items: 1 to 20 of 366

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Select item 14885167961.

rs1488516796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:158237564 (GRCh38)
4:159158716 (GRCh37)
Canonical SPDI:: NC_000004.12:158237563:A:T
Gene:: TMEM144 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.158237564A>T, NC_000004.11:g.159158716A>T, NM_018342.5:c.603A>T, NM_018342.4:c.603A>T, XM_005263110.3:c.603A>T, XM_005263110.2:c.603A>T, XM_005263110.1:c.603A>T, XM_017008366.2:c.603A>T, XM_017008366.1:c.603A>T, XM_047415908.1:c.535A>T, XP_047271864.1:p.Ile179Phe

Select item 14860669902.

rs1486066990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:158215296 (GRCh38)
4:159136448 (GRCh37)
Canonical SPDI:: NC_000004.12:158215295:G:C,NC_000004.12:158215295:G:T
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158215296G>C, NC_000004.12:g.158215296G>T, NC_000004.11:g.159136448G>C, NC_000004.11:g.159136448G>T, NM_018342.5:c.215G>C, NM_018342.5:c.215G>T, NM_018342.4:c.215G>C, NM_018342.4:c.215G>T, XM_005263110.3:c.215G>C, XM_005263110.3:c.215G>T, XM_005263110.2:c.215G>C, XM_005263110.2:c.215G>T, XM_005263110.1:c.215G>C, XM_005263110.1:c.215G>T, XM_017008366.2:c.215G>C, XM_017008366.2:c.215G>T, XM_017008366.1:c.215G>C, XM_017008366.1:c.215G>T, XM_047415908.1:c.215G>C, XM_047415908.1:c.215G>T, NP_060812.2:p.Gly72Ala, NP_060812.2:p.Gly72Val, XP_005263167.1:p.Gly72Ala, XP_005263167.1:p.Gly72Val, XP_016863855.1:p.Gly72Ala, XP_016863855.1:p.Gly72Val, XP_047271864.1:p.Gly72Ala, XP_047271864.1:p.Gly72Val

Select item 14852511183.

rs1485251118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:158217355 (GRCh38)
4:159138507 (GRCh37)
Canonical SPDI:: NC_000004.12:158217354:T:G
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158217355T>G, NC_000004.11:g.159138507T>G, NM_018342.5:c.267T>G, NM_018342.4:c.267T>G, XM_005263110.3:c.267T>G, XM_005263110.2:c.267T>G, XM_005263110.1:c.267T>G, XM_017008366.2:c.267T>G, XM_017008366.1:c.267T>G, XM_047415908.1:c.267T>G, NP_060812.2:p.Ile89Met, XP_005263167.1:p.Ile89Met, XP_016863855.1:p.Ile89Met, XP_047271864.1:p.Ile89Met

Select item 14828621304.

rs1482862130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:158217383 (GRCh38)
4:159138535 (GRCh37)
Canonical SPDI:: NC_000004.12:158217382:G:A
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.158217383G>A, NC_000004.11:g.159138535G>A, NM_018342.5:c.295G>A, NM_018342.4:c.295G>A, XM_005263110.3:c.295G>A, XM_005263110.2:c.295G>A, XM_005263110.1:c.295G>A, XM_017008366.2:c.295G>A, XM_017008366.1:c.295G>A, XM_047415908.1:c.295G>A, NP_060812.2:p.Gly99Arg, XP_005263167.1:p.Gly99Arg, XP_016863855.1:p.Gly99Arg, XP_047271864.1:p.Gly99Arg

Select item 14824554395.

rs1482455439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:158212708 (GRCh38)
4:159133860 (GRCh37)
Canonical SPDI:: NC_000004.12:158212707:C:A
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158212708C>A, NC_000004.11:g.159133860C>A, NM_018342.5:c.41C>A, NM_018342.4:c.41C>A, XM_005263110.3:c.41C>A, XM_005263110.2:c.41C>A, XM_005263110.1:c.41C>A, XM_017008366.2:c.41C>A, XM_017008366.1:c.41C>A, XM_047415908.1:c.41C>A, NP_060812.2:p.Ser14Tyr, XP_005263167.1:p.Ser14Tyr, XP_016863855.1:p.Ser14Tyr, XP_047271864.1:p.Ser14Tyr

Select item 14740279786.

rs1474027978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:158237629 (GRCh38)
4:159158781 (GRCh37)
Canonical SPDI:: NC_000004.12:158237628:G:A
Gene:: TMEM144 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158237629G>A, NC_000004.11:g.159158781G>A, NM_018342.5:c.668G>A, NM_018342.4:c.668G>A, XM_005263110.3:c.668G>A, XM_005263110.2:c.668G>A, XM_005263110.1:c.668G>A, XM_017008366.2:c.668G>A, XM_017008366.1:c.668G>A, XM_047415908.1:c.*15G>A, NP_060812.2:p.Gly223Glu, XP_005263167.1:p.Gly223Glu, XP_016863855.1:p.Gly223Glu

Select item 14733462307.

rs1473346230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:158240311 (GRCh38)
4:159161463 (GRCh37)
Canonical SPDI:: NC_000004.12:158240310:T:C,NC_000004.12:158240310:T:G
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158240311T>C, NC_000004.12:g.158240311T>G, NC_000004.11:g.159161463T>C, NC_000004.11:g.159161463T>G, NM_018342.5:c.695T>C, NM_018342.5:c.695T>G, NM_018342.4:c.695T>C, NM_018342.4:c.695T>G, XM_005263110.3:c.695T>C, XM_005263110.3:c.695T>G, XM_005263110.2:c.695T>C, XM_005263110.2:c.695T>G, XM_005263110.1:c.695T>C, XM_005263110.1:c.695T>G, XM_017008366.2:c.695T>C, XM_017008366.2:c.695T>G, XM_017008366.1:c.695T>C, XM_017008366.1:c.695T>G, NP_060812.2:p.Val232Ala, NP_060812.2:p.Val232Gly, XP_005263167.1:p.Val232Ala, XP_005263167.1:p.Val232Gly, XP_016863855.1:p.Val232Ala, XP_016863855.1:p.Val232Gly

Select item 14707160398.

rs1470716039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:158212716 (GRCh38)
4:159133868 (GRCh37)
Canonical SPDI:: NC_000004.12:158212715:G:A
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158212716G>A, NC_000004.11:g.159133868G>A, NM_018342.5:c.49G>A, NM_018342.4:c.49G>A, XM_005263110.3:c.49G>A, XM_005263110.2:c.49G>A, XM_005263110.1:c.49G>A, XM_017008366.2:c.49G>A, XM_017008366.1:c.49G>A, XM_047415908.1:c.49G>A, NP_060812.2:p.Val17Ile, XP_005263167.1:p.Val17Ile, XP_016863855.1:p.Val17Ile, XP_047271864.1:p.Val17Ile

Select item 14688103459.

rs1468810345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:158217354 (GRCh38)
4:159138506 (GRCh37)
Canonical SPDI:: NC_000004.12:158217353:T:C
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158217354T>C, NC_000004.11:g.159138506T>C, NM_018342.5:c.266T>C, NM_018342.4:c.266T>C, XM_005263110.3:c.266T>C, XM_005263110.2:c.266T>C, XM_005263110.1:c.266T>C, XM_017008366.2:c.266T>C, XM_017008366.1:c.266T>C, XM_047415908.1:c.266T>C, NP_060812.2:p.Ile89Thr, XP_005263167.1:p.Ile89Thr, XP_016863855.1:p.Ile89Thr, XP_047271864.1:p.Ile89Thr

Select item 146433925310.

rs1464339253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158215311 (GRCh38)
4:159136463 (GRCh37)
Canonical SPDI:: NC_000004.12:158215310:C:T
Gene:: TMEM144 (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_000004.12:g.158215311C>T, NC_000004.11:g.159136463C>T, NM_018342.5:c.230C>T, NM_018342.4:c.230C>T, XM_005263110.3:c.230C>T, XM_005263110.2:c.230C>T, XM_005263110.1:c.230C>T, XM_017008366.2:c.230C>T, XM_017008366.1:c.230C>T, XM_047415908.1:c.230C>T, NP_060812.2:p.Thr77Ile, XP_005263167.1:p.Thr77Ile, XP_016863855.1:p.Thr77Ile, XP_047271864.1:p.Thr77Ile

Select item 146285852011.

rs1462858520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:158232982 (GRCh38)
4:159154134 (GRCh37)
Canonical SPDI:: NC_000004.12:158232981:T:C
Gene:: TMEM144 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158232982T>C, NC_000004.11:g.159154134T>C, NM_018342.5:c.495T>C, NM_018342.4:c.495T>C, XM_005263110.3:c.495T>C, XM_005263110.2:c.495T>C, XM_005263110.1:c.495T>C, XM_017008366.2:c.495T>C, XM_017008366.1:c.495T>C, XM_047415908.1:c.495T>C

Select item 146026636012.

rs1460266360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158237582 (GRCh38)
4:159158734 (GRCh37)
Canonical SPDI:: NC_000004.12:158237581:C:T
Gene:: TMEM144 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.158237582C>T, NC_000004.11:g.159158734C>T, NM_018342.5:c.621C>T, NM_018342.4:c.621C>T, XM_005263110.3:c.621C>T, XM_005263110.2:c.621C>T, XM_005263110.1:c.621C>T, XM_017008366.2:c.621C>T, XM_017008366.1:c.621C>T, XM_047415908.1:c.553C>T, XP_047271864.1:p.His185Tyr

Select item 146000880013.

rs1460008800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:158244342 (GRCh38)
4:159165494 (GRCh37)
Canonical SPDI:: NC_000004.12:158244341:A:T
Gene:: TMEM144 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.158244342A>T, NC_000004.11:g.159165494A>T, NM_018342.5:c.947A>T, NM_018342.4:c.947A>T, XM_005263110.3:c.947A>T, XM_005263110.2:c.947A>T, XM_005263110.1:c.947A>T, XM_017008366.2:c.947A>T, XM_017008366.1:c.947A>T, NP_060812.2:p.Glu316Val, XP_005263167.1:p.Glu316Val, XP_016863855.1:p.Glu316Val

Select item 145548079914.

rs1455480799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158215246 (GRCh38)
4:159136398 (GRCh37)
Canonical SPDI:: NC_000004.12:158215245:C:T
Gene:: TMEM144 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.158215246C>T, NC_000004.11:g.159136398C>T, NM_018342.5:c.165C>T, NM_018342.4:c.165C>T, XM_005263110.3:c.165C>T, XM_005263110.2:c.165C>T, XM_005263110.1:c.165C>T, XM_017008366.2:c.165C>T, XM_017008366.1:c.165C>T, XM_047415908.1:c.165C>T

Select item 144839356115.

rs1448393561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158219325 (GRCh38)
4:159140477 (GRCh37)
Canonical SPDI:: NC_000004.12:158219324:A:G
Gene:: TMEM144 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.001638/3 (Korea1K)
HGVS:: NC_000004.12:g.158219325A>G, NC_000004.11:g.159140477A>G, NM_018342.5:c.348A>G, NM_018342.4:c.348A>G, XM_005263110.3:c.348A>G, XM_005263110.2:c.348A>G, XM_005263110.1:c.348A>G, XM_017008366.2:c.348A>G, XM_017008366.1:c.348A>G, XM_047415908.1:c.348A>G

Select item 144191415716.

rs1441914157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:158215232 (GRCh38)
4:159136384 (GRCh37)
Canonical SPDI:: NC_000004.12:158215231:G:T
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158215232G>T, NC_000004.11:g.159136384G>T, NM_018342.5:c.151G>T, NM_018342.4:c.151G>T, XM_005263110.3:c.151G>T, XM_005263110.2:c.151G>T, XM_005263110.1:c.151G>T, XM_017008366.2:c.151G>T, XM_017008366.1:c.151G>T, XM_047415908.1:c.151G>T, NP_060812.2:p.Val51Phe, XP_005263167.1:p.Val51Phe, XP_016863855.1:p.Val51Phe, XP_047271864.1:p.Val51Phe

Select item 143673361417.

rs1436733614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:158219339 (GRCh38)
4:159140491 (GRCh37)
Canonical SPDI:: NC_000004.12:158219338:A:T
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158219339A>T, NC_000004.11:g.159140491A>T, NM_018342.5:c.362A>T, NM_018342.4:c.362A>T, XM_005263110.3:c.362A>T, XM_005263110.2:c.362A>T, XM_005263110.1:c.362A>T, XM_017008366.2:c.362A>T, XM_017008366.1:c.362A>T, XM_047415908.1:c.362A>T, NP_060812.2:p.Glu121Val, XP_005263167.1:p.Glu121Val, XP_016863855.1:p.Glu121Val, XP_047271864.1:p.Glu121Val

Select item 143336587118.

rs1433365871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:158244328 (GRCh38)
4:159165480 (GRCh37)
Canonical SPDI:: NC_000004.12:158244327:C:G
Gene:: TMEM144 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.158244328C>G, NC_000004.11:g.159165480C>G, NM_018342.5:c.933C>G, NM_018342.4:c.933C>G, XM_005263110.3:c.933C>G, XM_005263110.2:c.933C>G, XM_005263110.1:c.933C>G, XM_017008366.2:c.933C>G, XM_017008366.1:c.933C>G, NP_060812.2:p.Ile311Met, XP_005263167.1:p.Ile311Met, XP_016863855.1:p.Ile311Met

Select item 143063551719.

rs1430635517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:158237526 (GRCh38)
4:159158678 (GRCh37)
Canonical SPDI:: NC_000004.12:158237525:G:A
Gene:: TMEM144 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.158237526G>A, NC_000004.11:g.159158678G>A, NM_018342.5:c.565G>A, NM_018342.4:c.565G>A, XM_005263110.3:c.565G>A, XM_005263110.2:c.565G>A, XM_005263110.1:c.565G>A, XM_017008366.2:c.565G>A, XM_017008366.1:c.565G>A, XM_047415908.1:c.497G>A, NP_060812.2:p.Gly189Ser, XP_005263167.1:p.Gly189Ser, XP_016863855.1:p.Gly189Ser, XP_047271864.1:p.Gly166Glu

Select item 142632185220.

rs1426321852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158241601 (GRCh38)
4:159162753 (GRCh37)
Canonical SPDI:: NC_000004.12:158241600:A:G
Gene:: TMEM144 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158241601A>G, NC_000004.11:g.159162753A>G, NM_018342.5:c.895A>G, NM_018342.4:c.895A>G, XM_005263110.3:c.895A>G, XM_005263110.2:c.895A>G, XM_005263110.1:c.895A>G, XM_017008366.2:c.895A>G, XM_017008366.1:c.895A>G, NP_060812.2:p.Thr299Ala, XP_005263167.1:p.Thr299Ala, XP_016863855.1:p.Thr299Ala

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