SNP Links for Protein (Select 1004426878) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31369576 (GRCh38)
1:31842423 (GRCh37)
Canonical SPDI:: NC_000001.11:31369575:T:C
Gene:: FABP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31369576T>C, NC_000001.10:g.31842423T>C, NG_047049.1:g.8708A>G, NM_001320996.2:c.88A>G, NM_001320996.1:c.88A>G, NP_001307925.1:p.Thr30Ala

Select item 140071393611.

rs1400713936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31369487 (GRCh38)
1:31842334 (GRCh37)
Canonical SPDI:: NC_000001.11:31369486:G:A
Gene:: FABP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.001369/4 (KOREAN)
HGVS:: NC_000001.11:g.31369487G>A, NC_000001.10:g.31842334G>A, NG_047049.1:g.8797C>T, NM_004102.5:c.144C>T, NM_004102.4:c.144C>T, NM_004102.3:c.144C>T, NM_001320996.2:c.177C>T, NM_001320996.1:c.177C>T, XM_011541007.4:c.144C>T, XM_011541007.3:c.144C>T, XM_011541007.2:c.144C>T, XM_011541007.1:c.144C>T

Select item 139710277112.

rs1397102771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:31372999 (GRCh38)
1:31845846 (GRCh37)
Canonical SPDI:: NC_000001.11:31372998:G:A,NC_000001.11:31372998:G:T
Gene:: FABP3 (Varview), LOC124903892 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.31372999G>A, NC_000001.11:g.31372999G>T, NC_000001.10:g.31845846G>A, NC_000001.10:g.31845846G>T, NG_047049.1:g.5285C>T, NG_047049.1:g.5285C>A, NM_004102.5:c.16C>T, NM_004102.5:c.16C>A, NM_004102.4:c.16C>T, NM_004102.4:c.16C>A, NM_004102.3:c.16C>T, NM_004102.3:c.16C>A, NM_001320996.2:c.16C>T, NM_001320996.2:c.16C>A, NM_001320996.1:c.16C>T, NM_001320996.1:c.16C>A, XM_011541007.4:c.16C>T, XM_011541007.4:c.16C>A, XM_011541007.3:c.16C>T, XM_011541007.3:c.16C>A, XM_011541007.2:c.16C>T, XM_011541007.2:c.16C>A, XM_011541007.1:c.16C>T, XM_011541007.1:c.16C>A, NP_004093.1:p.Leu6Met, NP_001307925.1:p.Leu6Met, XP_011539309.1:p.Leu6Met

Select item 138766053913.

rs1387660539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:31372959 (GRCh38)
1:31845806 (GRCh37)
Canonical SPDI:: NC_000001.11:31372958:T:A
Gene:: FABP3 (Varview), LOC124903892 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31372959T>A, NC_000001.10:g.31845806T>A, NG_047049.1:g.5325A>T, NM_004102.5:c.56A>T, NM_004102.4:c.56A>T, NM_004102.3:c.56A>T, NM_001320996.2:c.56A>T, NM_001320996.1:c.56A>T, XM_011541007.4:c.56A>T, XM_011541007.3:c.56A>T, XM_011541007.2:c.56A>T, XM_011541007.1:c.56A>T, NP_004093.1:p.Asp19Val, NP_001307925.1:p.Asp19Val, XP_011539309.1:p.Asp19Val

Select item 138413702714.

rs1384137027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31369405 (GRCh38)
1:31842252 (GRCh37)
Canonical SPDI:: NC_000001.11:31369404:C:T
Gene:: FABP3 (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_000001.11:g.31369405C>T, NC_000001.10:g.31842252C>T, NG_047049.1:g.8879G>A, NM_004102.5:c.226G>A, NM_004102.4:c.226G>A, NM_004102.3:c.226G>A, NM_001320996.2:c.259G>A, NM_001320996.1:c.259G>A, XM_011541007.4:c.226G>A, XM_011541007.3:c.226G>A, XM_011541007.2:c.226G>A, XM_011541007.1:c.226G>A, NP_004093.1:p.Ala76Thr, NP_001307925.1:p.Ala87Thr, XP_011539309.1:p.Ala76Thr

Select item 138305744615.

rs1383057446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31369475 (GRCh38)
1:31842322 (GRCh37)
Canonical SPDI:: NC_000001.11:31369474:T:C
Gene:: FABP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.31369475T>C, NC_000001.10:g.31842322T>C, NG_047049.1:g.8809A>G, NM_004102.5:c.156A>G, NM_004102.4:c.156A>G, NM_004102.3:c.156A>G, NM_001320996.2:c.189A>G, NM_001320996.1:c.189A>G, XM_011541007.4:c.156A>G, XM_011541007.3:c.156A>G, XM_011541007.2:c.156A>G, XM_011541007.1:c.156A>G

Select item 137387437316.

rs1373874373 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:31369557 (GRCh38)
1:31842404 (GRCh37)
Canonical SPDI:: NC_000001.11:31369556:CC:C
Gene:: FABP3 (Varview)
Functional Consequence:: splice_acceptor_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31369558del, NC_000001.10:g.31842405del, NG_047049.1:g.8727del, NM_001320996.2:c.107del, NM_001320996.1:c.107del, NP_001307925.1:p.Gly36fs

Select item 136239632917.

rs1362396329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31365908 (GRCh38)
1:31838755 (GRCh37)
Canonical SPDI:: NC_000001.11:31365907:C:T
Gene:: FABP3 (Varview)
Functional Consequence:: intron_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=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.31365908C>T, NC_000001.10:g.31838755C>T, NG_047049.1:g.12376G>A, NM_004102.5:c.380G>A, NM_004102.4:c.380G>A, NM_004102.3:c.380G>A, NM_001320996.2:c.413G>A, NM_001320996.1:c.413G>A, NP_004093.1:p.Arg127His, NP_001307925.1:p.Arg138His

Select item 135660722918.

rs1356607229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31367423 (GRCh38)
1:31840270 (GRCh37)
Canonical SPDI:: NC_000001.11:31367422:C:T
Gene:: FABP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31367423C>T, NC_000001.10:g.31840270C>T, NG_047049.1:g.10861G>A, NM_004102.5:c.318G>A, NM_004102.4:c.318G>A, NM_004102.3:c.318G>A, NM_001320996.2:c.351G>A, NM_001320996.1:c.351G>A, XM_011541007.4:c.318G>A, XM_011541007.3:c.318G>A, XM_011541007.2:c.318G>A, XM_011541007.1:c.318G>A

Select item 135498346619.

rs1354983466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31369424 (GRCh38)
1:31842271 (GRCh37)
Canonical SPDI:: NC_000001.11:31369423:C:T
Gene:: FABP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.001711/5 (KOREAN)
HGVS:: NC_000001.11:g.31369424C>T, NC_000001.10:g.31842271C>T, NG_047049.1:g.8860G>A, NM_004102.5:c.207G>A, NM_004102.4:c.207G>A, NM_004102.3:c.207G>A, NM_001320996.2:c.240G>A, NM_001320996.1:c.240G>A, XM_011541007.4:c.207G>A, XM_011541007.3:c.207G>A, XM_011541007.2:c.207G>A, XM_011541007.1:c.207G>A

Select item 134866011520.

rs1348660115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31367461 (GRCh38)
1:31840308 (GRCh37)
Canonical SPDI:: NC_000001.11:31367460:G:A
Gene:: FABP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.31367461G>A, NC_000001.10:g.31840308G>A, NG_047049.1:g.10823C>T, NM_004102.5:c.280C>T, NM_004102.4:c.280C>T, NM_004102.3:c.280C>T, NM_001320996.2:c.313C>T, NM_001320996.1:c.313C>T, XM_011541007.4:c.280C>T, XM_011541007.3:c.280C>T, XM_011541007.2:c.280C>T, XM_011541007.1:c.280C>T, NP_004093.1:p.His94Tyr, NP_001307925.1:p.His105Tyr, XP_011539309.1:p.His94Tyr

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