SNP Links for Protein (Select 14249538) - SNP

Links from Protein

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Select item 14893897411.

rs1489389741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:102439071 (GRCh38)
7:102079518 (GRCh37)
Canonical SPDI:: NC_000007.14:102439070:A:C,NC_000007.14:102439070:A:G
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.003821/7 (Korea1K)
HGVS:: NC_000007.14:g.102439071A>C, NC_000007.14:g.102439071A>G, NC_000007.13:g.102079518A>C, NC_000007.13:g.102079518A>G, NM_032831.4:c.115A>C, NM_032831.4:c.115A>G, NM_032831.3:c.115A>C, NM_032831.3:c.115A>G, NM_001126340.3:c.115A>C, NM_001126340.3:c.115A>G, NM_001126340.2:c.115A>C, NM_001126340.2:c.115A>G, NM_001271818.2:c.115A>C, NM_001271818.2:c.115A>G, NM_001271818.1:c.115A>C, NM_001271818.1:c.115A>G, NP_116220.1:p.Thr39Pro, NP_116220.1:p.Thr39Ala, NP_001119812.1:p.Thr39Pro, NP_001119812.1:p.Thr39Ala, NP_001258747.1:p.Thr39Pro, NP_001258747.1:p.Thr39Ala

Select item 14889091582.

rs1488909158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102439136 (GRCh38)
7:102079583 (GRCh37)
Canonical SPDI:: NC_000007.14:102439135:G:A
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.102439136G>A, NC_000007.13:g.102079583G>A, NM_032831.4:c.180G>A, NM_032831.3:c.180G>A, NM_001126340.3:c.180G>A, NM_001126340.2:c.180G>A, NM_001271818.2:c.180G>A, NM_001271818.1:c.180G>A

Select item 14881551063.

rs1488155106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:102446704 (GRCh38)
7:102087151 (GRCh37)
Canonical SPDI:: NC_000007.14:102446703:T:C,NC_000007.14:102446703:T:G
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102446704T>C, NC_000007.14:g.102446704T>G, NC_000007.13:g.102087151T>C, NC_000007.13:g.102087151T>G, NM_032831.4:c.417T>C, NM_032831.4:c.417T>G, NM_032831.3:c.417T>C, NM_032831.3:c.417T>G, NM_001126340.3:c.417T>C, NM_001126340.3:c.417T>G, NM_001126340.2:c.417T>C, NM_001126340.2:c.417T>G, NM_001271818.2:c.417T>C, NM_001271818.2:c.417T>G, NM_001271818.1:c.417T>C, NM_001271818.1:c.417T>G, NM_001271819.2:c.186T>C, NM_001271819.2:c.186T>G, NM_001271819.1:c.186T>C, NM_001271819.1:c.186T>G, NP_116220.1:p.His139Gln, NP_001119812.1:p.His139Gln, NP_001258747.1:p.His139Gln, NP_001258748.1:p.His62Gln

Select item 14880678984.

rs1488067898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102446975 (GRCh38)
7:102087422 (GRCh37)
Canonical SPDI:: NC_000007.14:102446974:C:T
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102446975C>T, NC_000007.13:g.102087422C>T, NM_032831.4:c.688C>T, NM_032831.3:c.688C>T, NM_001126340.3:c.688C>T, NM_001126340.2:c.688C>T, NM_001271818.2:c.688C>T, NM_001271818.1:c.688C>T, NM_001271819.2:c.457C>T, NM_001271819.1:c.457C>T, NP_116220.1:p.His230Tyr, NP_001119812.1:p.His230Tyr, NP_001258747.1:p.His230Tyr, NP_001258748.1:p.His153Tyr

Select item 14848502255.

rs1484850225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102446915 (GRCh38)
7:102087362 (GRCh37)
Canonical SPDI:: NC_000007.14:102446914:A:G
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
G=0.000685/2 (KOREAN)
HGVS:: NC_000007.14:g.102446915A>G, NC_000007.13:g.102087362A>G, NM_032831.4:c.628A>G, NM_032831.3:c.628A>G, NM_001126340.3:c.628A>G, NM_001126340.2:c.628A>G, NM_001271818.2:c.628A>G, NM_001271818.1:c.628A>G, NM_001271819.2:c.397A>G, NM_001271819.1:c.397A>G, NP_116220.1:p.Ile210Val, NP_001119812.1:p.Ile210Val, NP_001258747.1:p.Ile210Val, NP_001258748.1:p.Ile133Val

Select item 14719166816.

rs1471916681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102446855 (GRCh38)
7:102087302 (GRCh37)
Canonical SPDI:: NC_000007.14:102446854:A:G
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102446855A>G, NC_000007.13:g.102087302A>G, NM_032831.4:c.568A>G, NM_032831.3:c.568A>G, NM_001126340.3:c.568A>G, NM_001126340.2:c.568A>G, NM_001271818.2:c.568A>G, NM_001271818.1:c.568A>G, NM_001271819.2:c.337A>G, NM_001271819.1:c.337A>G, NP_116220.1:p.Ser190Gly, NP_001119812.1:p.Ser190Gly, NP_001258747.1:p.Ser190Gly, NP_001258748.1:p.Ser113Gly

Select item 14653845677.

rs1465384567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102446568 (GRCh38)
7:102087015 (GRCh37)
Canonical SPDI:: NC_000007.14:102446567:T:C
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102446568T>C, NC_000007.13:g.102087015T>C, NM_032831.4:c.281T>C, NM_032831.3:c.281T>C, NM_001126340.3:c.281T>C, NM_001126340.2:c.281T>C, NM_001271818.2:c.281T>C, NM_001271818.1:c.281T>C, NM_001271819.2:c.50T>C, NM_001271819.1:c.50T>C, NP_116220.1:p.Leu94Pro, NP_001119812.1:p.Leu94Pro, NP_001258747.1:p.Leu94Pro, NP_001258748.1:p.Leu17Pro

Select item 14607824478.

rs1460782447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102439163 (GRCh38)
7:102079610 (GRCh37)
Canonical SPDI:: NC_000007.14:102439162:C:T
Gene:: ORAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102439163C>T, NC_000007.13:g.102079610C>T, NM_032831.4:c.207C>T, NM_032831.3:c.207C>T, NM_001126340.3:c.207C>T, NM_001126340.2:c.207C>T, NM_001271818.2:c.207C>T, NM_001271818.1:c.207C>T

Select item 14581356709.

rs1458135670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102446777 (GRCh38)
7:102087224 (GRCh37)
Canonical SPDI:: NC_000007.14:102446776:G:A
Gene:: ORAI2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.102446777G>A, NC_000007.13:g.102087224G>A, NM_032831.4:c.490G>A, NM_032831.3:c.490G>A, NM_001126340.3:c.490G>A, NM_001126340.2:c.490G>A, NM_001271818.2:c.490G>A, NM_001271818.1:c.490G>A, NM_001271819.2:c.259G>A, NM_001271819.1:c.259G>A, NP_116220.1:p.Glu164Lys, NP_001119812.1:p.Glu164Lys, NP_001258747.1:p.Glu164Lys, NP_001258748.1:p.Glu87Lys

Select item 145598009810.

rs1455980098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:102446569 (GRCh38)
7:102087016 (GRCh37)
Canonical SPDI:: NC_000007.14:102446568:G:C,NC_000007.14:102446568:G:T
Gene:: ORAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.102446569G>C, NC_000007.14:g.102446569G>T, NC_000007.13:g.102087016G>C, NC_000007.13:g.102087016G>T, NM_032831.4:c.282G>C, NM_032831.4:c.282G>T, NM_032831.3:c.282G>C, NM_032831.3:c.282G>T, NM_001126340.3:c.282G>C, NM_001126340.3:c.282G>T, NM_001126340.2:c.282G>C, NM_001126340.2:c.282G>T, NM_001271818.2:c.282G>C, NM_001271818.2:c.282G>T, NM_001271818.1:c.282G>C, NM_001271818.1:c.282G>T, NM_001271819.2:c.51G>C, NM_001271819.2:c.51G>T, NM_001271819.1:c.51G>C, NM_001271819.1:c.51G>T

Select item 145577889711.

rs1455778897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102439073 (GRCh38)
7:102079520 (GRCh37)
Canonical SPDI:: NC_000007.14:102439072:C:G
Gene:: ORAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.102439073C>G, NC_000007.13:g.102079520C>G, NM_032831.4:c.117C>G, NM_032831.3:c.117C>G, NM_001126340.3:c.117C>G, NM_001126340.2:c.117C>G, NM_001271818.2:c.117C>G, NM_001271818.1:c.117C>G

Select item 145054902812.

rs1450549028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102446769 (GRCh38)
7:102087216 (GRCh37)
Canonical SPDI:: NC_000007.14:102446768:T:C
Gene:: ORAI2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102446769T>C, NC_000007.13:g.102087216T>C, NM_032831.4:c.482T>C, NM_032831.3:c.482T>C, NM_001126340.3:c.482T>C, NM_001126340.2:c.482T>C, NM_001271818.2:c.482T>C, NM_001271818.1:c.482T>C, NM_001271819.2:c.251T>C, NM_001271819.1:c.251T>C, NP_116220.1:p.Phe161Ser, NP_001119812.1:p.Phe161Ser, NP_001258747.1:p.Phe161Ser, NP_001258748.1:p.Phe84Ser

Select item 144919525113.

rs1449195251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:102446599 (GRCh38)
7:102087046 (GRCh37)
Canonical SPDI:: NC_000007.14:102446598:G:A,NC_000007.14:102446598:G:C
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.102446599G>A, NC_000007.14:g.102446599G>C, NC_000007.13:g.102087046G>A, NC_000007.13:g.102087046G>C, NM_032831.4:c.312G>A, NM_032831.4:c.312G>C, NM_032831.3:c.312G>A, NM_032831.3:c.312G>C, NM_001126340.3:c.312G>A, NM_001126340.3:c.312G>C, NM_001126340.2:c.312G>A, NM_001126340.2:c.312G>C, NM_001271818.2:c.312G>A, NM_001271818.2:c.312G>C, NM_001271818.1:c.312G>A, NM_001271818.1:c.312G>C, NM_001271819.2:c.81G>A, NM_001271819.2:c.81G>C, NM_001271819.1:c.81G>A, NM_001271819.1:c.81G>C

Select item 144913601514.

rs1449136015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102446824 (GRCh38)
7:102087271 (GRCh37)
Canonical SPDI:: NC_000007.14:102446823:G:A
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.102446824G>A, NC_000007.13:g.102087271G>A, NM_032831.4:c.537G>A, NM_032831.3:c.537G>A, NM_001126340.3:c.537G>A, NM_001126340.2:c.537G>A, NM_001271818.2:c.537G>A, NM_001271818.1:c.537G>A, NM_001271819.2:c.306G>A, NM_001271819.1:c.306G>A

Select item 144876948215.

rs1448769482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:102447023 (GRCh38)
7:102087470 (GRCh37)
Canonical SPDI:: NC_000007.14:102447022:G:A,NC_000007.14:102447022:G:C
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102447023G>A, NC_000007.14:g.102447023G>C, NC_000007.13:g.102087470G>A, NC_000007.13:g.102087470G>C, NM_032831.4:c.736G>A, NM_032831.4:c.736G>C, NM_032831.3:c.736G>A, NM_032831.3:c.736G>C, NM_001126340.3:c.736G>A, NM_001126340.3:c.736G>C, NM_001126340.2:c.736G>A, NM_001126340.2:c.736G>C, NM_001271818.2:c.736G>A, NM_001271818.2:c.736G>C, NM_001271818.1:c.736G>A, NM_001271818.1:c.736G>C, NM_001271819.2:c.505G>A, NM_001271819.2:c.505G>C, NM_001271819.1:c.505G>A, NM_001271819.1:c.505G>C, NP_116220.1:p.Gly246Arg, NP_116220.1:p.Gly246Arg, NP_001119812.1:p.Gly246Arg, NP_001119812.1:p.Gly246Arg, NP_001258747.1:p.Gly246Arg, NP_001258747.1:p.Gly246Arg, NP_001258748.1:p.Gly169Arg, NP_001258748.1:p.Gly169Arg

Select item 144667861816.

rs1446678618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:102446820 (GRCh38)
7:102087267 (GRCh37)
Canonical SPDI:: NC_000007.14:102446819:C:A
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.102446820C>A, NC_000007.13:g.102087267C>A, NM_032831.4:c.533C>A, NM_032831.3:c.533C>A, NM_001126340.3:c.533C>A, NM_001126340.2:c.533C>A, NM_001271818.2:c.533C>A, NM_001271818.1:c.533C>A, NM_001271819.2:c.302C>A, NM_001271819.1:c.302C>A, NP_116220.1:p.Ala178Asp, NP_001119812.1:p.Ala178Asp, NP_001258747.1:p.Ala178Asp, NP_001258748.1:p.Ala101Asp

Select item 143824729417.

rs1438247294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102439172 (GRCh38)
7:102079619 (GRCh37)
Canonical SPDI:: NC_000007.14:102439171:C:G
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102439172C>G, NC_000007.13:g.102079619C>G, NM_032831.4:c.216C>G, NM_032831.3:c.216C>G, NM_001126340.3:c.216C>G, NM_001126340.2:c.216C>G, NM_001271818.2:c.216C>G, NM_001271818.1:c.216C>G

Select item 143250351118.

rs1432503511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102446629 (GRCh38)
7:102087076 (GRCh37)
Canonical SPDI:: NC_000007.14:102446628:C:T
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102446629C>T, NC_000007.13:g.102087076C>T, NM_032831.4:c.342C>T, NM_032831.3:c.342C>T, NM_001126340.3:c.342C>T, NM_001126340.2:c.342C>T, NM_001271818.2:c.342C>T, NM_001271818.1:c.342C>T, NM_001271819.2:c.111C>T, NM_001271819.1:c.111C>T

Select item 143152166719.

rs1431521667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:102438990 (GRCh38)
7:102079437 (GRCh37)
Canonical SPDI:: NC_000007.14:102438989:T:A
Gene:: ORAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102438990T>A, NC_000007.13:g.102079437T>A, NM_032831.4:c.34T>A, NM_032831.3:c.34T>A, NM_001126340.3:c.34T>A, NM_001126340.2:c.34T>A, NM_001271818.2:c.34T>A, NM_001271818.1:c.34T>A, NP_116220.1:p.Ser12Thr, NP_001119812.1:p.Ser12Thr, NP_001258747.1:p.Ser12Thr

Select item 142689506720.

rs1426895067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102446554 (GRCh38)
7:102087001 (GRCh37)
Canonical SPDI:: NC_000007.14:102446553:C:T
Gene:: ORAI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000007.14:g.102446554C>T, NC_000007.13:g.102087001C>T, NM_032831.4:c.267C>T, NM_032831.3:c.267C>T, NM_001126340.3:c.267C>T, NM_001126340.2:c.267C>T, NM_001271818.2:c.267C>T, NM_001271818.1:c.267C>T, NM_001271819.2:c.36C>T, NM_001271819.1:c.36C>T

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dbSNP

Result Filters

Clinical Significance

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