SNP Links for Protein (Select 338221716) - SNP

Links from Protein

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Select item 14909370031.

rs1490937003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143286686 (GRCh38)
7:142983779 (GRCh37)
Canonical SPDI:: NC_000007.14:143286685:G:A
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286686G>A, NC_000007.13:g.142983779G>A, NG_029248.1:g.3472G>A, NR_040003.3:n.751G>A, NR_040003.2:n.759G>A, NR_040003.1:n.762G>A, NM_001242774.3:c.508G>A, NM_001242774.2:c.508G>A, NM_001242774.1:c.508G>A, NM_001242775.3:c.508G>A, NM_001242775.2:c.508G>A, NM_001242775.1:c.508G>A, NM_153345.3:c.508G>A, NM_153345.2:c.508G>A, NM_001282876.2:c.508G>A, NM_001282876.1:c.508G>A, NM_001242773.2:c.508G>A, NM_001242773.1:c.508G>A, NR_104254.2:n.402G>A, NR_104254.1:n.461G>A, NR_104253.2:n.304G>A, NR_104253.1:n.363G>A, NM_001282877.1:c.508G>A, NR_104250.1:n.440G>A, NR_104252.1:n.437G>A, NM_001242776.1:c.79G>A, NR_104251.1:n.339G>A, NM_001242777.1:c.79G>A, NP_001229703.1:p.Ala170Thr, NP_001229704.1:p.Ala170Thr, NP_699176.1:p.Ala170Thr, NP_001269805.1:p.Ala170Thr, NP_001229702.1:p.Ala170Thr, NP_001269806.1:p.Ala170Thr

Select item 14793254702.

rs1479325470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:143286433 (GRCh38)
7:142983526 (GRCh37)
Canonical SPDI:: NC_000007.14:143286432:A:T
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.143286433A>T, NC_000007.13:g.142983526A>T, NG_029248.1:g.3219A>T, NR_040003.3:n.498A>T, NR_040003.2:n.506A>T, NR_040003.1:n.509A>T, NM_001242774.3:c.255A>T, NM_001242774.2:c.255A>T, NM_001242774.1:c.255A>T, NM_001242775.3:c.255A>T, NM_001242775.2:c.255A>T, NM_001242775.1:c.255A>T, NM_153345.3:c.255A>T, NM_153345.2:c.255A>T, NM_001282876.2:c.255A>T, NM_001282876.1:c.255A>T, NM_001242773.2:c.255A>T, NM_001242773.1:c.255A>T, NR_104254.2:n.149A>T, NR_104254.1:n.208A>T, NR_104253.2:n.51A>T, NR_104253.1:n.110A>T, NM_001282877.1:c.255A>T, NR_104250.1:n.187A>T, NR_104252.1:n.184A>T, NM_001242776.1:c.-175A>T, NR_104251.1:n.86A>T, NM_001242777.1:c.-175A>T, NP_001229703.1:p.Glu85Asp, NP_001229704.1:p.Glu85Asp, NP_699176.1:p.Glu85Asp, NP_001269805.1:p.Glu85Asp, NP_001229702.1:p.Glu85Asp, NP_001269806.1:p.Glu85Asp

Select item 14750100193.

rs1475010019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143286503 (GRCh38)
7:142983596 (GRCh37)
Canonical SPDI:: NC_000007.14:143286502:G:A
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143286503G>A, NC_000007.13:g.142983596G>A, NG_029248.1:g.3289G>A, NR_040003.3:n.568G>A, NR_040003.2:n.576G>A, NR_040003.1:n.579G>A, NM_001242774.3:c.325G>A, NM_001242774.2:c.325G>A, NM_001242774.1:c.325G>A, NM_001242775.3:c.325G>A, NM_001242775.2:c.325G>A, NM_001242775.1:c.325G>A, NM_153345.3:c.325G>A, NM_153345.2:c.325G>A, NM_001282876.2:c.325G>A, NM_001282876.1:c.325G>A, NM_001242773.2:c.325G>A, NM_001242773.1:c.325G>A, NR_104254.2:n.219G>A, NR_104254.1:n.278G>A, NR_104253.2:n.121G>A, NR_104253.1:n.180G>A, NM_001282877.1:c.325G>A, NR_104250.1:n.257G>A, NR_104252.1:n.254G>A, NM_001242776.1:c.-105G>A, NR_104251.1:n.156G>A, NM_001242777.1:c.-105G>A, NP_001229703.1:p.Asp109Asn, NP_001229704.1:p.Asp109Asn, NP_699176.1:p.Asp109Asn, NP_001269805.1:p.Asp109Asn, NP_001229702.1:p.Asp109Asn, NP_001269806.1:p.Asp109Asn

Select item 14699464284.

rs1469946428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:143286593 (GRCh38)
7:142983686 (GRCh37)
Canonical SPDI:: NC_000007.14:143286592:C:A,NC_000007.14:143286592:C:G
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000007.14:g.143286593C>A, NC_000007.14:g.143286593C>G, NC_000007.13:g.142983686C>A, NC_000007.13:g.142983686C>G, NG_029248.1:g.3379C>A, NG_029248.1:g.3379C>G, NR_040003.3:n.658C>A, NR_040003.3:n.658C>G, NR_040003.2:n.666C>A, NR_040003.2:n.666C>G, NR_040003.1:n.669C>A, NR_040003.1:n.669C>G, NM_001242774.3:c.415C>A, NM_001242774.3:c.415C>G, NM_001242774.2:c.415C>A, NM_001242774.2:c.415C>G, NM_001242774.1:c.415C>A, NM_001242774.1:c.415C>G, NM_001242775.3:c.415C>A, NM_001242775.3:c.415C>G, NM_001242775.2:c.415C>A, NM_001242775.2:c.415C>G, NM_001242775.1:c.415C>A, NM_001242775.1:c.415C>G, NM_153345.3:c.415C>A, NM_153345.3:c.415C>G, NM_153345.2:c.415C>A, NM_153345.2:c.415C>G, NM_001282876.2:c.415C>A, NM_001282876.2:c.415C>G, NM_001282876.1:c.415C>A, NM_001282876.1:c.415C>G, NM_001242773.2:c.415C>A, NM_001242773.2:c.415C>G, NM_001242773.1:c.415C>A, NM_001242773.1:c.415C>G, NR_104254.2:n.309C>A, NR_104254.2:n.309C>G, NR_104254.1:n.368C>A, NR_104254.1:n.368C>G, NR_104253.2:n.211C>A, NR_104253.2:n.211C>G, NR_104253.1:n.270C>A, NR_104253.1:n.270C>G, NM_001282877.1:c.415C>A, NM_001282877.1:c.415C>G, NR_104250.1:n.347C>A, NR_104250.1:n.347C>G, NR_104252.1:n.344C>A, NR_104252.1:n.344C>G, NM_001242776.1:c.-15C>A, NM_001242776.1:c.-15C>G, NR_104251.1:n.246C>A, NR_104251.1:n.246C>G, NM_001242777.1:c.-15C>A, NM_001242777.1:c.-15C>G, NP_001229703.1:p.Leu139Met, NP_001229703.1:p.Leu139Val, NP_001229704.1:p.Leu139Met, NP_001229704.1:p.Leu139Val, NP_699176.1:p.Leu139Met, NP_699176.1:p.Leu139Val, NP_001269805.1:p.Leu139Met, NP_001269805.1:p.Leu139Val, NP_001229702.1:p.Leu139Met, NP_001229702.1:p.Leu139Val, NP_001269806.1:p.Leu139Met, NP_001269806.1:p.Leu139Val

Select item 14623929815.

rs1462392981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:143286110 (GRCh38)
7:142983203 (GRCh37)
Canonical SPDI:: NC_000007.14:143286109:T:G
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286110T>G, NC_000007.13:g.142983203T>G, NG_029248.1:g.2896T>G, NM_001242774.3:c.153T>G, NM_001242774.2:c.153T>G, NM_001242774.1:c.153T>G, NM_001242775.3:c.153T>G, NM_001242775.2:c.153T>G, NM_001242775.1:c.153T>G, NM_153345.3:c.153T>G, NM_153345.2:c.153T>G, NM_001282876.2:c.153T>G, NM_001282876.1:c.153T>G, NM_001242773.2:c.153T>G, NM_001242773.1:c.153T>G, NM_001282877.1:c.153T>G, NR_133932.1:n.225A>C, NP_001229703.1:p.Phe51Leu, NP_001229704.1:p.Phe51Leu, NP_699176.1:p.Phe51Leu, NP_001269805.1:p.Phe51Leu, NP_001229702.1:p.Phe51Leu, NP_001269806.1:p.Phe51Leu

Select item 14619152556.

rs1461915255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143286568 (GRCh38)
7:142983661 (GRCh37)
Canonical SPDI:: NC_000007.14:143286567:T:C
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143286568T>C, NC_000007.13:g.142983661T>C, NG_029248.1:g.3354T>C, NR_040003.3:n.633T>C, NR_040003.2:n.641T>C, NR_040003.1:n.644T>C, NM_001242774.3:c.390T>C, NM_001242774.2:c.390T>C, NM_001242774.1:c.390T>C, NM_001242775.3:c.390T>C, NM_001242775.2:c.390T>C, NM_001242775.1:c.390T>C, NM_153345.3:c.390T>C, NM_153345.2:c.390T>C, NM_001282876.2:c.390T>C, NM_001282876.1:c.390T>C, NM_001242773.2:c.390T>C, NM_001242773.1:c.390T>C, NR_104254.2:n.284T>C, NR_104254.1:n.343T>C, NR_104253.2:n.186T>C, NR_104253.1:n.245T>C, NM_001282877.1:c.390T>C, NR_104250.1:n.322T>C, NR_104252.1:n.319T>C, NM_001242776.1:c.-40T>C, NR_104251.1:n.221T>C, NM_001242777.1:c.-40T>C

Select item 14597573057.

rs1459757305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143286671 (GRCh38)
7:142983764 (GRCh37)
Canonical SPDI:: NC_000007.14:143286670:C:T
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000007.14:g.143286671C>T, NC_000007.13:g.142983764C>T, NG_029248.1:g.3457C>T, NR_040003.3:n.736C>T, NR_040003.2:n.744C>T, NR_040003.1:n.747C>T, NM_001242774.3:c.493C>T, NM_001242774.2:c.493C>T, NM_001242774.1:c.493C>T, NM_001242775.3:c.493C>T, NM_001242775.2:c.493C>T, NM_001242775.1:c.493C>T, NM_153345.3:c.493C>T, NM_153345.2:c.493C>T, NM_001282876.2:c.493C>T, NM_001282876.1:c.493C>T, NM_001242773.2:c.493C>T, NM_001242773.1:c.493C>T, NR_104254.2:n.387C>T, NR_104254.1:n.446C>T, NR_104253.2:n.289C>T, NR_104253.1:n.348C>T, NM_001282877.1:c.493C>T, NR_104250.1:n.425C>T, NR_104252.1:n.422C>T, NM_001242776.1:c.64C>T, NR_104251.1:n.324C>T, NM_001242777.1:c.64C>T, NP_001229703.1:p.Leu165Phe, NP_001229704.1:p.Leu165Phe, NP_699176.1:p.Leu165Phe, NP_001269805.1:p.Leu165Phe, NP_001229702.1:p.Leu165Phe, NP_001269806.1:p.Leu165Phe

Select item 14506931778.

rs1450693177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143286782 (GRCh38)
7:142983875 (GRCh37)
Canonical SPDI:: NC_000007.14:143286781:C:G
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286782C>G, NC_000007.13:g.142983875C>G, NG_029248.1:g.3568C>G, NR_040003.3:n.847C>G, NR_040003.2:n.855C>G, NR_040003.1:n.858C>G, NM_001242774.3:c.604C>G, NM_001242774.2:c.604C>G, NM_001242774.1:c.604C>G, NM_001242775.3:c.604C>G, NM_001242775.2:c.604C>G, NM_001242775.1:c.604C>G, NM_153345.3:c.604C>G, NM_153345.2:c.604C>G, NM_001282876.2:c.604C>G, NM_001282876.1:c.604C>G, NM_001242773.2:c.604C>G, NM_001242773.1:c.604C>G, NR_104254.2:n.498C>G, NR_104254.1:n.557C>G, NR_104253.2:n.400C>G, NR_104253.1:n.459C>G, NM_001282877.1:c.604C>G, NR_104250.1:n.536C>G, NR_104252.1:n.533C>G, NM_001242776.1:c.175C>G, NR_104251.1:n.435C>G, NM_001242777.1:c.175C>G, NP_001229703.1:p.Pro202Ala, NP_001229704.1:p.Pro202Ala, NP_699176.1:p.Pro202Ala, NP_001269805.1:p.Pro202Ala, NP_001229702.1:p.Pro202Ala, NP_001269806.1:p.Pro202Ala

Select item 14466479209.

rs1446647920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCT [Show Flanks]
Chromosome:: 7:143286017 (GRCh38)
7:142983111 (GRCh37)
Canonical SPDI:: NC_000007.14:143286017:TCCTTCCT:TCCTTCCTTCCT
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCCTTCCTTCCT=0./0 (ALFA)
TCCT=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143286018TCCT[3], NC_000007.13:g.142983111TCCT[3], NG_029248.1:g.2804TCCT[3], NM_001242774.3:c.65_68dup, NM_001242774.2:c.65_68dup, NM_001242774.1:c.65_68dup, NM_001242775.3:c.65_68dup, NM_001242775.2:c.65_68dup, NM_001242775.1:c.65_68dup, NM_153345.3:c.65_68dup, NM_153345.2:c.65_68dup, NM_001282876.2:c.65_68dup, NM_001282876.1:c.65_68dup, NM_001242773.2:c.65_68dup, NM_001242773.1:c.65_68dup, NM_001282877.1:c.65_68dup, NR_133932.1:n.310AGGA[3], NP_001229703.1:p.Leu24fs, NP_001229704.1:p.Leu24fs, NP_699176.1:p.Leu24fs, NP_001269805.1:p.Leu24fs, NP_001229702.1:p.Leu24fs, NP_001269806.1:p.Leu24fs

Select item 144578162310.

rs1445781623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:143286678 (GRCh38)
7:142983771 (GRCh37)
Canonical SPDI:: NC_000007.14:143286677:G:A,NC_000007.14:143286677:G:C
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143286678G>A, NC_000007.14:g.143286678G>C, NC_000007.13:g.142983771G>A, NC_000007.13:g.142983771G>C, NG_029248.1:g.3464G>A, NG_029248.1:g.3464G>C, NR_040003.3:n.743G>A, NR_040003.3:n.743G>C, NR_040003.2:n.751G>A, NR_040003.2:n.751G>C, NR_040003.1:n.754G>A, NR_040003.1:n.754G>C, NM_001242774.3:c.500G>A, NM_001242774.3:c.500G>C, NM_001242774.2:c.500G>A, NM_001242774.2:c.500G>C, NM_001242774.1:c.500G>A, NM_001242774.1:c.500G>C, NM_001242775.3:c.500G>A, NM_001242775.3:c.500G>C, NM_001242775.2:c.500G>A, NM_001242775.2:c.500G>C, NM_001242775.1:c.500G>A, NM_001242775.1:c.500G>C, NM_153345.3:c.500G>A, NM_153345.3:c.500G>C, NM_153345.2:c.500G>A, NM_153345.2:c.500G>C, NM_001282876.2:c.500G>A, NM_001282876.2:c.500G>C, NM_001282876.1:c.500G>A, NM_001282876.1:c.500G>C, NM_001242773.2:c.500G>A, NM_001242773.2:c.500G>C, NM_001242773.1:c.500G>A, NM_001242773.1:c.500G>C, NR_104254.2:n.394G>A, NR_104254.2:n.394G>C, NR_104254.1:n.453G>A, NR_104254.1:n.453G>C, NR_104253.2:n.296G>A, NR_104253.2:n.296G>C, NR_104253.1:n.355G>A, NR_104253.1:n.355G>C, NM_001282877.1:c.500G>A, NM_001282877.1:c.500G>C, NR_104250.1:n.432G>A, NR_104250.1:n.432G>C, NR_104252.1:n.429G>A, NR_104252.1:n.429G>C, NM_001242776.1:c.71G>A, NM_001242776.1:c.71G>C, NR_104251.1:n.331G>A, NR_104251.1:n.331G>C, NM_001242777.1:c.71G>A, NM_001242777.1:c.71G>C, NP_001229703.1:p.Gly167Glu, NP_001229703.1:p.Gly167Ala, NP_001229704.1:p.Gly167Glu, NP_001229704.1:p.Gly167Ala, NP_699176.1:p.Gly167Glu, NP_699176.1:p.Gly167Ala, NP_001269805.1:p.Gly167Glu, NP_001269805.1:p.Gly167Ala, NP_001229702.1:p.Gly167Glu, NP_001229702.1:p.Gly167Ala, NP_001269806.1:p.Gly167Glu, NP_001269806.1:p.Gly167Ala

Select item 144400593611.

rs1444005936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:143286532 (GRCh38)
7:142983625 (GRCh37)
Canonical SPDI:: NC_000007.14:143286531:G:T
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.143286532G>T, NC_000007.13:g.142983625G>T, NG_029248.1:g.3318G>T, NR_040003.3:n.597G>T, NR_040003.2:n.605G>T, NR_040003.1:n.608G>T, NM_001242774.3:c.354G>T, NM_001242774.2:c.354G>T, NM_001242774.1:c.354G>T, NM_001242775.3:c.354G>T, NM_001242775.2:c.354G>T, NM_001242775.1:c.354G>T, NM_153345.3:c.354G>T, NM_153345.2:c.354G>T, NM_001282876.2:c.354G>T, NM_001282876.1:c.354G>T, NM_001242773.2:c.354G>T, NM_001242773.1:c.354G>T, NR_104254.2:n.248G>T, NR_104254.1:n.307G>T, NR_104253.2:n.150G>T, NR_104253.1:n.209G>T, NM_001282877.1:c.354G>T, NR_104250.1:n.286G>T, NR_104252.1:n.283G>T, NM_001242776.1:c.-76G>T, NR_104251.1:n.185G>T, NM_001242777.1:c.-76G>T

Select item 143843176412.

rs1438431764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:143286765 (GRCh38)
7:142983858 (GRCh37)
Canonical SPDI:: NC_000007.14:143286764:A:C
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.143286765A>C, NC_000007.13:g.142983858A>C, NG_029248.1:g.3551A>C, NR_040003.3:n.830A>C, NR_040003.2:n.838A>C, NR_040003.1:n.841A>C, NM_001242774.3:c.587A>C, NM_001242774.2:c.587A>C, NM_001242774.1:c.587A>C, NM_001242775.3:c.587A>C, NM_001242775.2:c.587A>C, NM_001242775.1:c.587A>C, NM_153345.3:c.587A>C, NM_153345.2:c.587A>C, NM_001282876.2:c.587A>C, NM_001282876.1:c.587A>C, NM_001242773.2:c.587A>C, NM_001242773.1:c.587A>C, NR_104254.2:n.481A>C, NR_104254.1:n.540A>C, NR_104253.2:n.383A>C, NR_104253.1:n.442A>C, NM_001282877.1:c.587A>C, NR_104250.1:n.519A>C, NR_104252.1:n.516A>C, NM_001242776.1:c.158A>C, NR_104251.1:n.418A>C, NM_001242777.1:c.158A>C, NP_001229703.1:p.Asp196Ala, NP_001229704.1:p.Asp196Ala, NP_699176.1:p.Asp196Ala, NP_001269805.1:p.Asp196Ala, NP_001229702.1:p.Asp196Ala, NP_001269806.1:p.Asp196Ala

Select item 143724972213.

rs1437249722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143286804 (GRCh38)
7:142983897 (GRCh37)
Canonical SPDI:: NC_000007.14:143286803:A:G
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286804A>G, NC_000007.13:g.142983897A>G, NG_029248.1:g.3590A>G, NR_040003.3:n.869A>G, NR_040003.2:n.877A>G, NR_040003.1:n.880A>G, NM_001242774.3:c.626A>G, NM_001242774.2:c.626A>G, NM_001242774.1:c.626A>G, NM_001242775.3:c.626A>G, NM_001242775.2:c.626A>G, NM_001242775.1:c.626A>G, NM_153345.3:c.626A>G, NM_153345.2:c.626A>G, NM_001282876.2:c.626A>G, NM_001282876.1:c.626A>G, NM_001242773.2:c.626A>G, NM_001242773.1:c.626A>G, NR_104254.2:n.520A>G, NR_104254.1:n.579A>G, NR_104253.2:n.422A>G, NR_104253.1:n.481A>G, NM_001282877.1:c.626A>G, NR_104250.1:n.558A>G, NR_104252.1:n.555A>G, NM_001242776.1:c.197A>G, NR_104251.1:n.457A>G, NM_001242777.1:c.197A>G, NP_001229703.1:p.Tyr209Cys, NP_001229704.1:p.Tyr209Cys, NP_699176.1:p.Tyr209Cys, NP_001269805.1:p.Tyr209Cys, NP_001229702.1:p.Tyr209Cys, NP_001269806.1:p.Tyr209Cys

Select item 143699180114.

rs1436991801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:143286035 (GRCh38)
7:142983128 (GRCh37)
Canonical SPDI:: NC_000007.14:143286034:G:A,NC_000007.14:143286034:G:T
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143286035G>A, NC_000007.14:g.143286035G>T, NC_000007.13:g.142983128G>A, NC_000007.13:g.142983128G>T, NG_029248.1:g.2821G>A, NG_029248.1:g.2821G>T, NM_001242774.3:c.78G>A, NM_001242774.3:c.78G>T, NM_001242774.2:c.78G>A, NM_001242774.2:c.78G>T, NM_001242774.1:c.78G>A, NM_001242774.1:c.78G>T, NM_001242775.3:c.78G>A, NM_001242775.3:c.78G>T, NM_001242775.2:c.78G>A, NM_001242775.2:c.78G>T, NM_001242775.1:c.78G>A, NM_001242775.1:c.78G>T, NM_153345.3:c.78G>A, NM_153345.3:c.78G>T, NM_153345.2:c.78G>A, NM_153345.2:c.78G>T, NM_001282876.2:c.78G>A, NM_001282876.2:c.78G>T, NM_001282876.1:c.78G>A, NM_001282876.1:c.78G>T, NM_001242773.2:c.78G>A, NM_001242773.2:c.78G>T, NM_001242773.1:c.78G>A, NM_001242773.1:c.78G>T, NM_001282877.1:c.78G>A, NM_001282877.1:c.78G>T, NR_133932.1:n.300C>T, NR_133932.1:n.300C>A

Select item 142647639115.

rs1426476391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:143286051 (GRCh38)
7:142983144 (GRCh37)
Canonical SPDI:: NC_000007.14:143286050:A:C
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286051A>C, NC_000007.13:g.142983144A>C, NG_029248.1:g.2837A>C, NM_001242774.3:c.94A>C, NM_001242774.2:c.94A>C, NM_001242774.1:c.94A>C, NM_001242775.3:c.94A>C, NM_001242775.2:c.94A>C, NM_001242775.1:c.94A>C, NM_153345.3:c.94A>C, NM_153345.2:c.94A>C, NM_001282876.2:c.94A>C, NM_001282876.1:c.94A>C, NM_001242773.2:c.94A>C, NM_001242773.1:c.94A>C, NM_001282877.1:c.94A>C, NR_133932.1:n.284T>G, NP_001229703.1:p.Lys32Gln, NP_001229704.1:p.Lys32Gln, NP_699176.1:p.Lys32Gln, NP_001269805.1:p.Lys32Gln, NP_001229702.1:p.Lys32Gln, NP_001269806.1:p.Lys32Gln

Select item 142105852916.

rs1421058529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143286449 (GRCh38)
7:142983542 (GRCh37)
Canonical SPDI:: NC_000007.14:143286448:G:A
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143286449G>A, NC_000007.13:g.142983542G>A, NG_029248.1:g.3235G>A, NR_040003.3:n.514G>A, NR_040003.2:n.522G>A, NR_040003.1:n.525G>A, NM_001242774.3:c.271G>A, NM_001242774.2:c.271G>A, NM_001242774.1:c.271G>A, NM_001242775.3:c.271G>A, NM_001242775.2:c.271G>A, NM_001242775.1:c.271G>A, NM_153345.3:c.271G>A, NM_153345.2:c.271G>A, NM_001282876.2:c.271G>A, NM_001282876.1:c.271G>A, NM_001242773.2:c.271G>A, NM_001242773.1:c.271G>A, NR_104254.2:n.165G>A, NR_104254.1:n.224G>A, NR_104253.2:n.67G>A, NR_104253.1:n.126G>A, NM_001282877.1:c.271G>A, NR_104250.1:n.203G>A, NR_104252.1:n.200G>A, NM_001242776.1:c.-159G>A, NR_104251.1:n.102G>A, NM_001242777.1:c.-159G>A, NP_001229703.1:p.Val91Ile, NP_001229704.1:p.Val91Ile, NP_699176.1:p.Val91Ile, NP_001269805.1:p.Val91Ile, NP_001229702.1:p.Val91Ile, NP_001269806.1:p.Val91Ile

Select item 141636583617.

rs1416365836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143286065 (GRCh38)
7:142983158 (GRCh37)
Canonical SPDI:: NC_000007.14:143286064:C:T
Gene:: TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.003/2 (Vietnamese)
HGVS:: NC_000007.14:g.143286065C>T, NC_000007.13:g.142983158C>T, NG_029248.1:g.2851C>T, NM_001242774.3:c.108C>T, NM_001242774.2:c.108C>T, NM_001242774.1:c.108C>T, NM_001242775.3:c.108C>T, NM_001242775.2:c.108C>T, NM_001242775.1:c.108C>T, NM_153345.3:c.108C>T, NM_153345.2:c.108C>T, NM_001282876.2:c.108C>T, NM_001282876.1:c.108C>T, NM_001242773.2:c.108C>T, NM_001242773.1:c.108C>T, NM_001282877.1:c.108C>T, NR_133932.1:n.270G>A

Select item 141555944518.

rs1415559445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:143286577 (GRCh38)
7:142983670 (GRCh37)
Canonical SPDI:: NC_000007.14:143286576:G:C
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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_000007.14:g.143286577G>C, NC_000007.13:g.142983670G>C, NG_029248.1:g.3363G>C, NR_040003.3:n.642G>C, NR_040003.2:n.650G>C, NR_040003.1:n.653G>C, NM_001242774.3:c.399G>C, NM_001242774.2:c.399G>C, NM_001242774.1:c.399G>C, NM_001242775.3:c.399G>C, NM_001242775.2:c.399G>C, NM_001242775.1:c.399G>C, NM_153345.3:c.399G>C, NM_153345.2:c.399G>C, NM_001282876.2:c.399G>C, NM_001282876.1:c.399G>C, NM_001242773.2:c.399G>C, NM_001242773.1:c.399G>C, NR_104254.2:n.293G>C, NR_104254.1:n.352G>C, NR_104253.2:n.195G>C, NR_104253.1:n.254G>C, NM_001282877.1:c.399G>C, NR_104250.1:n.331G>C, NR_104252.1:n.328G>C, NM_001242776.1:c.-31G>C, NR_104251.1:n.230G>C, NM_001242777.1:c.-31G>C

Select item 141338157719.

rs1413381577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143286644 (GRCh38)
7:142983737 (GRCh37)
Canonical SPDI:: NC_000007.14:143286643:C:T
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286644C>T, NC_000007.13:g.142983737C>T, NG_029248.1:g.3430C>T, NR_040003.3:n.709C>T, NR_040003.2:n.717C>T, NR_040003.1:n.720C>T, NM_001242774.3:c.466C>T, NM_001242774.2:c.466C>T, NM_001242774.1:c.466C>T, NM_001242775.3:c.466C>T, NM_001242775.2:c.466C>T, NM_001242775.1:c.466C>T, NM_153345.3:c.466C>T, NM_153345.2:c.466C>T, NM_001282876.2:c.466C>T, NM_001282876.1:c.466C>T, NM_001242773.2:c.466C>T, NM_001242773.1:c.466C>T, NR_104254.2:n.360C>T, NR_104254.1:n.419C>T, NR_104253.2:n.262C>T, NR_104253.1:n.321C>T, NM_001282877.1:c.466C>T, NR_104250.1:n.398C>T, NR_104252.1:n.395C>T, NM_001242776.1:c.37C>T, NR_104251.1:n.297C>T, NM_001242777.1:c.37C>T, NP_001229703.1:p.Pro156Ser, NP_001229704.1:p.Pro156Ser, NP_699176.1:p.Pro156Ser, NP_001269805.1:p.Pro156Ser, NP_001229702.1:p.Pro156Ser, NP_001269806.1:p.Pro156Ser

Select item 140855040520.

rs1408550405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143286580 (GRCh38)
7:142983673 (GRCh37)
Canonical SPDI:: NC_000007.14:143286579:C:G
Gene:: CASP2 (Varview), TMEM139 (Varview), TMEM139-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143286580C>G, NC_000007.13:g.142983673C>G, NG_029248.1:g.3366C>G, NR_040003.3:n.645C>G, NR_040003.2:n.653C>G, NR_040003.1:n.656C>G, NM_001242774.3:c.402C>G, NM_001242774.2:c.402C>G, NM_001242774.1:c.402C>G, NM_001242775.3:c.402C>G, NM_001242775.2:c.402C>G, NM_001242775.1:c.402C>G, NM_153345.3:c.402C>G, NM_153345.2:c.402C>G, NM_001282876.2:c.402C>G, NM_001282876.1:c.402C>G, NM_001242773.2:c.402C>G, NM_001242773.1:c.402C>G, NR_104254.2:n.296C>G, NR_104254.1:n.355C>G, NR_104253.2:n.198C>G, NR_104253.1:n.257C>G, NM_001282877.1:c.402C>G, NR_104250.1:n.334C>G, NR_104252.1:n.331C>G, NM_001242776.1:c.-28C>G, NR_104251.1:n.233C>G, NM_001242777.1:c.-28C>G

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