SNP Links for Protein (Select 194239733) - SNP

Links from Protein

Items: 1 to 20 of 941

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Select item 14898905571.

rs1489890557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:482583 (GRCh38)
5:482698 (GRCh37)
Canonical SPDI:: NC_000005.10:482582:T:C
Gene:: SLC9A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.482583T>C, NC_000005.9:g.482698T>C, NG_046804.1:g.92846A>G, NM_004174.4:c.1321A>G, NM_004174.3:c.1321A>G, NM_004174.2:c.1321A>G, NM_001284351.3:c.1321A>G, NM_001284351.2:c.1321A>G, NM_001284351.1:c.1321A>G, NP_004165.2:p.Thr441Ala, NP_001271280.1:p.Thr441Ala

Select item 14894697122.

rs1489469712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:476310 (GRCh38)
5:476425 (GRCh37)
Canonical SPDI:: NC_000005.10:476309:G:A
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.476310G>A, NC_000005.9:g.476425G>A, NG_046804.1:g.99119C>T, NM_004174.4:c.1959C>T, NM_004174.3:c.1959C>T, NM_004174.2:c.1959C>T, NM_001284351.3:c.1932C>T, NM_001284351.2:c.1932C>T, NM_001284351.1:c.1932C>T, NR_125375.1:n.426G>A

Select item 14877623613.

rs1487762361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:488372 (GRCh38)
5:488487 (GRCh37)
Canonical SPDI:: NC_000005.10:488371:C:T
Gene:: SLC9A3 (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_000005.10:g.488372C>T, NC_000005.9:g.488487C>T, NG_046804.1:g.87057G>A, NM_004174.4:c.619G>A, NM_004174.3:c.619G>A, NM_004174.2:c.619G>A, NM_001284351.3:c.619G>A, NM_001284351.2:c.619G>A, NM_001284351.1:c.619G>A, NP_004165.2:p.Glu207Lys, NP_001271280.1:p.Glu207Lys

Select item 14868123654.

rs1486812365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:483359 (GRCh38)
5:483474 (GRCh37)
Canonical SPDI:: NC_000005.10:483358:C:G,NC_000005.10:483358:C:T
Gene:: SLC9A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.483359C>G, NC_000005.10:g.483359C>T, NC_000005.9:g.483474C>G, NC_000005.9:g.483474C>T, NG_046804.1:g.92070G>C, NG_046804.1:g.92070G>A, NM_004174.4:c.1056G>C, NM_004174.4:c.1056G>A, NM_004174.3:c.1056G>C, NM_004174.3:c.1056G>A, NM_004174.2:c.1056G>C, NM_004174.2:c.1056G>A, NM_001284351.3:c.1056G>C, NM_001284351.3:c.1056G>A, NM_001284351.2:c.1056G>C, NM_001284351.2:c.1056G>A, NM_001284351.1:c.1056G>C, NM_001284351.1:c.1056G>A, NP_004165.2:p.Met352Ile, NP_004165.2:p.Met352Ile, NP_001271280.1:p.Met352Ile, NP_001271280.1:p.Met352Ile

Select item 14866490375.

rs1486649037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:482634 (GRCh38)
5:482749 (GRCh37)
Canonical SPDI:: NC_000005.10:482633:C:T
Gene:: SLC9A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.482634C>T, NC_000005.9:g.482749C>T, NG_046804.1:g.92795G>A, NM_004174.4:c.1270G>A, NM_004174.3:c.1270G>A, NM_004174.2:c.1270G>A, NM_001284351.3:c.1270G>A, NM_001284351.2:c.1270G>A, NM_001284351.1:c.1270G>A, NP_004165.2:p.Val424Met, NP_001271280.1:p.Val424Met

Select item 14830206856.

rs1483020685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:492004 (GRCh38)
5:492119 (GRCh37)
Canonical SPDI:: NC_000005.10:492003:C:T
Gene:: SLC9A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.492004C>T, NC_000005.9:g.492119C>T, NG_046804.1:g.83425G>A, NM_004174.4:c.279G>A, NM_004174.3:c.279G>A, NM_004174.2:c.279G>A, NM_001284351.3:c.279G>A, NM_001284351.2:c.279G>A, NM_001284351.1:c.279G>A

Select item 14817729497.

rs1481772949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:491827 (GRCh38)
5:491942 (GRCh37)
Canonical SPDI:: NC_000005.10:491826:C:T
Gene:: SLC9A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.491827C>T, NC_000005.9:g.491942C>T, NG_046804.1:g.83602G>A, NM_004174.4:c.456G>A, NM_004174.3:c.456G>A, NM_004174.2:c.456G>A, NM_001284351.3:c.456G>A, NM_001284351.2:c.456G>A, NM_001284351.1:c.456G>A

Select item 14817044648.

rs1481704464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:524197 (GRCh38)
5:524312 (GRCh37)
Canonical SPDI:: NC_000005.10:524196:G:A
Gene:: SLC9A3 (Varview), LOC107986395 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.524197G>A, NC_000005.9:g.524312G>A, NG_046804.1:g.51232C>T, NM_004174.4:c.126C>T, NM_004174.3:c.126C>T, NM_004174.2:c.126C>T, NM_001284351.3:c.126C>T, NM_001284351.2:c.126C>T, NM_001284351.1:c.126C>T, NT_187550.1:g.104374C>T

Select item 14812382029.

rs1481238202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:474988 (GRCh38)
5:475103 (GRCh37)
Canonical SPDI:: NC_000005.10:474987:C:T
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.474988C>T, NC_000005.9:g.475103C>T, NG_046804.1:g.100441G>A, NM_004174.4:c.2396G>A, NM_004174.3:c.2396G>A, NM_004174.2:c.2396G>A, NM_001284351.3:c.2369G>A, NM_001284351.2:c.2369G>A, NM_001284351.1:c.2369G>A, NP_004165.2:p.Cys799Tyr, NP_001271280.1:p.Cys790Tyr

Select item 148066643210.

rs1480666432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:475609 (GRCh38)
5:475724 (GRCh37)
Canonical SPDI:: NC_000005.10:475608:C:A,NC_000005.10:475608:C:G
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.475609C>A, NC_000005.10:g.475609C>G, NC_000005.9:g.475724C>A, NC_000005.9:g.475724C>G, NG_046804.1:g.99820G>T, NG_046804.1:g.99820G>C, NM_004174.4:c.2203G>T, NM_004174.4:c.2203G>C, NM_004174.3:c.2203G>T, NM_004174.3:c.2203G>C, NM_004174.2:c.2203G>T, NM_004174.2:c.2203G>C, NM_001284351.3:c.2176G>T, NM_001284351.3:c.2176G>C, NM_001284351.2:c.2176G>T, NM_001284351.2:c.2176G>C, NM_001284351.1:c.2176G>T, NM_001284351.1:c.2176G>C, NP_004165.2:p.Glu735Ter, NP_004165.2:p.Glu735Gln, NP_001271280.1:p.Glu726Ter, NP_001271280.1:p.Glu726Gln

Select item 147862370411.

rs1478623704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:476262 (GRCh38)
5:476377 (GRCh37)
Canonical SPDI:: NC_000005.10:476261:C:T
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.476262C>T, NC_000005.9:g.476377C>T, NG_046804.1:g.99167G>A, NM_004174.4:c.2007G>A, NM_004174.3:c.2007G>A, NM_004174.2:c.2007G>A, NM_001284351.3:c.1980G>A, NM_001284351.2:c.1980G>A, NM_001284351.1:c.1980G>A, NR_125375.1:n.378C>T

Select item 147814949512.

rs1478149495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:476558 (GRCh38)
5:476673 (GRCh37)
Canonical SPDI:: NC_000005.10:476557:G:A
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.476558G>A, NC_000005.9:g.476673G>A, NG_046804.1:g.98871C>T, NM_004174.4:c.1875C>T, NM_004174.3:c.1875C>T, NM_004174.2:c.1875C>T, NM_001284351.3:c.1848C>T, NM_001284351.2:c.1848C>T, NM_001284351.1:c.1848C>T, NR_125375.1:n.674G>A

Select item 147801087113.

rs1478010871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:475017 (GRCh38)
5:475132 (GRCh37)
Canonical SPDI:: NC_000005.10:475016:C:T
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.475017C>T, NC_000005.9:g.475132C>T, NG_046804.1:g.100412G>A, NM_004174.4:c.2367G>A, NM_004174.3:c.2367G>A, NM_004174.2:c.2367G>A, NM_001284351.3:c.2340G>A, NM_001284351.2:c.2340G>A, NM_001284351.1:c.2340G>A

Select item 147753118314.

rs1477531183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:479861 (GRCh38)
5:479976 (GRCh37)
Canonical SPDI:: NC_000005.10:479860:T:C
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.479861T>C, NC_000005.9:g.479976T>C, NG_046804.1:g.95568A>G, NM_004174.4:c.1622A>G, NM_004174.3:c.1622A>G, NM_004174.2:c.1622A>G, NM_001284351.3:c.1595A>G, NM_001284351.2:c.1595A>G, NM_001284351.1:c.1595A>G, NR_125375.1:n.896T>C, NP_004165.2:p.Lys541Arg, NP_001271280.1:p.Lys532Arg

Select item 147735457815.

rs1477354578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:524260 (GRCh38)
5:524375 (GRCh37)
Canonical SPDI:: NC_000005.10:524259:C:A,NC_000005.10:524259:C:G
Gene:: SLC9A3 (Varview), LOC107986395 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.524260C>A, NC_000005.10:g.524260C>G, NC_000005.9:g.524375C>A, NC_000005.9:g.524375C>G, NG_046804.1:g.51169G>T, NG_046804.1:g.51169G>C, NM_004174.4:c.63G>T, NM_004174.4:c.63G>C, NM_004174.3:c.63G>T, NM_004174.3:c.63G>C, NM_004174.2:c.63G>T, NM_004174.2:c.63G>C, NM_001284351.3:c.63G>T, NM_001284351.3:c.63G>C, NM_001284351.2:c.63G>T, NM_001284351.2:c.63G>C, NM_001284351.1:c.63G>T, NM_001284351.1:c.63G>C, NT_187550.1:g.104311G>T, NT_187550.1:g.104311G>C

Select item 147628936416.

rs1476289364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:474947 (GRCh38)
5:475062 (GRCh37)
Canonical SPDI:: NC_000005.10:474946:A:C
Gene:: SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.474947A>C, NC_000005.9:g.475062A>C, NG_046804.1:g.100482T>G, NM_004174.4:c.2437T>G, NM_004174.3:c.2437T>G, NM_004174.2:c.2437T>G, NM_001284351.3:c.2410T>G, NM_001284351.2:c.2410T>G, NM_001284351.1:c.2410T>G, NP_004165.2:p.Ser813Ala, NP_001271280.1:p.Ser804Ala

Select item 147603604317.

rs1476036043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:479950 (GRCh38)
5:480065 (GRCh37)
Canonical SPDI:: NC_000005.10:479949:G:A
Gene:: SLC9A3 (Varview), SLC9A3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.479950G>A, NC_000005.9:g.480065G>A, NG_046804.1:g.95479C>T, NM_004174.4:c.1533C>T, NM_004174.3:c.1533C>T, NM_004174.2:c.1533C>T, NM_001284351.3:c.1506C>T, NM_001284351.2:c.1506C>T, NM_001284351.1:c.1506C>T, NR_125375.1:n.985G>A

Select item 147511955418.

rs1475119554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:524266 (GRCh38)
5:524381 (GRCh37)
Canonical SPDI:: NC_000005.10:524265:C:A
Gene:: SLC9A3 (Varview), LOC107986395 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.524266C>A, NC_000005.9:g.524381C>A, NG_046804.1:g.51163G>T, NM_004174.4:c.57G>T, NM_004174.3:c.57G>T, NM_004174.2:c.57G>T, NM_001284351.3:c.57G>T, NM_001284351.2:c.57G>T, NM_001284351.1:c.57G>T, NT_187550.1:g.104305G>T

Select item 147490341819.

rs1474903418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:524174 (GRCh38)
5:524289 (GRCh37)
Canonical SPDI:: NC_000005.10:524173:G:A
Gene:: SLC9A3 (Varview), LOC107986395 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.524174G>A, NC_000005.9:g.524289G>A, NG_046804.1:g.51255C>T, NM_004174.4:c.149C>T, NM_004174.3:c.149C>T, NM_004174.2:c.149C>T, NM_001284351.3:c.149C>T, NM_001284351.2:c.149C>T, NM_001284351.1:c.149C>T, NT_187550.1:g.104397C>T, NP_004165.2:p.Ala50Val, NP_001271280.1:p.Ala50Val

Select item 147150712320.

rs1471507123 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:524300 (GRCh38)
5:524415 (GRCh37)
Canonical SPDI:: NC_000005.10:524299:CCCC:CCC
Gene:: SLC9A3 (Varview), LOC107986395 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000005.10:g.524303del, NC_000005.9:g.524418del, NG_046804.1:g.51129del, NM_004174.4:c.23del, NM_004174.3:c.23del, NM_004174.2:c.23del, NM_001284351.3:c.23del, NM_001284351.2:c.23del, NM_001284351.1:c.23del, NT_187550.1:g.104271del, NP_004165.2:p.Gly8fs, NP_001271280.1:p.Gly8fs

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