SNP Links for Protein (Select 1022943149) - SNP

Links from Protein

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Select item 14897396871.

rs1489739687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:43644138 (GRCh38)
10:44139586 (GRCh37)
Canonical SPDI:: NC_000010.11:43644137:T:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.43644138T>C, NC_000010.10:g.44139586T>C, NM_001005368.3:c.734A>G, NM_001005368.2:c.734A>G, NM_001005368.1:c.734A>G, NM_006973.3:c.734A>G, NM_006973.2:c.734A>G, NM_001324165.2:c.746A>G, NM_001324165.1:c.746A>G, NM_001324168.2:c.659A>G, NM_001324168.1:c.659A>G, NM_001324164.2:c.746A>G, NM_001324164.1:c.746A>G, NM_001324166.2:c.659A>G, NM_001324166.1:c.659A>G, NM_001324167.2:c.659A>G, NM_001324167.1:c.659A>G, NP_001005368.1:p.Tyr245Cys, NP_008904.1:p.Tyr245Cys, NP_001311094.1:p.Tyr249Cys, NP_001311097.1:p.Tyr220Cys, NP_001311093.1:p.Tyr249Cys, NP_001311095.1:p.Tyr220Cys, NP_001311096.1:p.Tyr220Cys

Select item 14884221932.

rs1488422193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:43644270 (GRCh38)
10:44139718 (GRCh37)
Canonical SPDI:: NC_000010.11:43644269:T:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644270T>G, NC_000010.10:g.44139718T>G, NM_001005368.3:c.602A>C, NM_001005368.2:c.602A>C, NM_001005368.1:c.602A>C, NM_006973.3:c.602A>C, NM_006973.2:c.602A>C, NM_001324165.2:c.614A>C, NM_001324165.1:c.614A>C, NM_001324168.2:c.527A>C, NM_001324168.1:c.527A>C, NM_001324164.2:c.614A>C, NM_001324164.1:c.614A>C, NM_001324166.2:c.527A>C, NM_001324166.1:c.527A>C, NM_001324167.2:c.527A>C, NM_001324167.1:c.527A>C, NP_001005368.1:p.Lys201Thr, NP_008904.1:p.Lys201Thr, NP_001311094.1:p.Lys205Thr, NP_001311097.1:p.Lys176Thr, NP_001311093.1:p.Lys205Thr, NP_001311095.1:p.Lys176Thr, NP_001311096.1:p.Lys176Thr

Select item 14857752203.

rs1485775220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:43644740 (GRCh38)
10:44140188 (GRCh37)
Canonical SPDI:: NC_000010.11:43644739:C:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644740C>G, NC_000010.10:g.44140188C>G, NM_001005368.3:c.132G>C, NM_001005368.2:c.132G>C, NM_001005368.1:c.132G>C, NM_006973.3:c.132G>C, NM_006973.2:c.132G>C, NM_001324165.2:c.144G>C, NM_001324165.1:c.144G>C, NM_001324168.2:c.57G>C, NM_001324168.1:c.57G>C, NM_001324164.2:c.144G>C, NM_001324164.1:c.144G>C, NM_001324166.2:c.57G>C, NM_001324166.1:c.57G>C, NM_001324167.2:c.57G>C, NM_001324167.1:c.57G>C, NP_001005368.1:p.Trp44Cys, NP_008904.1:p.Trp44Cys, NP_001311094.1:p.Trp48Cys, NP_001311097.1:p.Trp19Cys, NP_001311093.1:p.Trp48Cys, NP_001311095.1:p.Trp19Cys, NP_001311096.1:p.Trp19Cys

Select item 14848058014.

rs1484805801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:43644731 (GRCh38)
10:44140179 (GRCh37)
Canonical SPDI:: NC_000010.11:43644730:T:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644731T>C, NC_000010.10:g.44140179T>C, NM_001005368.3:c.141A>G, NM_001005368.2:c.141A>G, NM_001005368.1:c.141A>G, NM_006973.3:c.141A>G, NM_006973.2:c.141A>G, NM_001324165.2:c.153A>G, NM_001324165.1:c.153A>G, NM_001324168.2:c.66A>G, NM_001324168.1:c.66A>G, NM_001324164.2:c.153A>G, NM_001324164.1:c.153A>G, NM_001324166.2:c.66A>G, NM_001324166.1:c.66A>G, NM_001324167.2:c.66A>G, NM_001324167.1:c.66A>G

Select item 14809800905.

rs1480980090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:43644528 (GRCh38)
10:44139976 (GRCh37)
Canonical SPDI:: NC_000010.11:43644527:C:A
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644528C>A, NC_000010.10:g.44139976C>A, NM_001005368.3:c.344G>T, NM_001005368.2:c.344G>T, NM_001005368.1:c.344G>T, NM_006973.3:c.344G>T, NM_006973.2:c.344G>T, NM_001324165.2:c.356G>T, NM_001324165.1:c.356G>T, NM_001324168.2:c.269G>T, NM_001324168.1:c.269G>T, NM_001324164.2:c.356G>T, NM_001324164.1:c.356G>T, NM_001324166.2:c.269G>T, NM_001324166.1:c.269G>T, NM_001324167.2:c.269G>T, NM_001324167.1:c.269G>T, NP_001005368.1:p.Arg115Met, NP_008904.1:p.Arg115Met, NP_001311094.1:p.Arg119Met, NP_001311097.1:p.Arg90Met, NP_001311093.1:p.Arg119Met, NP_001311095.1:p.Arg90Met, NP_001311096.1:p.Arg90Met

Select item 14805435706.

rs1480543570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:43644534 (GRCh38)
10:44139982 (GRCh37)
Canonical SPDI:: NC_000010.11:43644533:C:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
HGVS:: NC_000010.11:g.43644534C>G, NC_000010.10:g.44139982C>G, NM_001005368.3:c.338G>C, NM_001005368.2:c.338G>C, NM_001005368.1:c.338G>C, NM_006973.3:c.338G>C, NM_006973.2:c.338G>C, NM_001324165.2:c.350G>C, NM_001324165.1:c.350G>C, NM_001324168.2:c.263G>C, NM_001324168.1:c.263G>C, NM_001324164.2:c.350G>C, NM_001324164.1:c.350G>C, NM_001324166.2:c.263G>C, NM_001324166.1:c.263G>C, NM_001324167.2:c.263G>C, NM_001324167.1:c.263G>C, NP_001005368.1:p.Ser113Thr, NP_008904.1:p.Ser113Thr, NP_001311094.1:p.Ser117Thr, NP_001311097.1:p.Ser88Thr, NP_001311093.1:p.Ser117Thr, NP_001311095.1:p.Ser88Thr, NP_001311096.1:p.Ser88Thr

Select item 14743902957.

rs1474390295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:43644648 (GRCh38)
10:44140096 (GRCh37)
Canonical SPDI:: NC_000010.11:43644647:C:G,NC_000010.11:43644647:C:T
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.43644648C>G, NC_000010.11:g.43644648C>T, NC_000010.10:g.44140096C>G, NC_000010.10:g.44140096C>T, NM_001005368.3:c.224G>C, NM_001005368.3:c.224G>A, NM_001005368.2:c.224G>C, NM_001005368.2:c.224G>A, NM_001005368.1:c.224G>C, NM_001005368.1:c.224G>A, NM_006973.3:c.224G>C, NM_006973.3:c.224G>A, NM_006973.2:c.224G>C, NM_006973.2:c.224G>A, NM_001324165.2:c.236G>C, NM_001324165.2:c.236G>A, NM_001324165.1:c.236G>C, NM_001324165.1:c.236G>A, NM_001324168.2:c.149G>C, NM_001324168.2:c.149G>A, NM_001324168.1:c.149G>C, NM_001324168.1:c.149G>A, NM_001324164.2:c.236G>C, NM_001324164.2:c.236G>A, NM_001324164.1:c.236G>C, NM_001324164.1:c.236G>A, NM_001324166.2:c.149G>C, NM_001324166.2:c.149G>A, NM_001324166.1:c.149G>C, NM_001324166.1:c.149G>A, NM_001324167.2:c.149G>C, NM_001324167.2:c.149G>A, NM_001324167.1:c.149G>C, NM_001324167.1:c.149G>A, NP_001005368.1:p.Arg75Thr, NP_001005368.1:p.Arg75Lys, NP_008904.1:p.Arg75Thr, NP_008904.1:p.Arg75Lys, NP_001311094.1:p.Arg79Thr, NP_001311094.1:p.Arg79Lys, NP_001311097.1:p.Arg50Thr, NP_001311097.1:p.Arg50Lys, NP_001311093.1:p.Arg79Thr, NP_001311093.1:p.Arg79Lys, NP_001311095.1:p.Arg50Thr, NP_001311095.1:p.Arg50Lys, NP_001311096.1:p.Arg50Thr, NP_001311096.1:p.Arg50Lys

Select item 14675170808.

rs1467517080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:43644161 (GRCh38)
10:44139609 (GRCh37)
Canonical SPDI:: NC_000010.11:43644160:T:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644161T>C, NC_000010.10:g.44139609T>C, NM_001005368.3:c.711A>G, NM_001005368.2:c.711A>G, NM_001005368.1:c.711A>G, NM_006973.3:c.711A>G, NM_006973.2:c.711A>G, NM_001324165.2:c.723A>G, NM_001324165.1:c.723A>G, NM_001324168.2:c.636A>G, NM_001324168.1:c.636A>G, NM_001324164.2:c.723A>G, NM_001324164.1:c.723A>G, NM_001324166.2:c.636A>G, NM_001324166.1:c.636A>G, NM_001324167.2:c.636A>G, NM_001324167.1:c.636A>G

Select item 14659830469.

rs1465983046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:43644773 (GRCh38)
10:44140221 (GRCh37)
Canonical SPDI:: NC_000010.11:43644772:A:C,NC_000010.11:43644772:A:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.43644773A>C, NC_000010.11:g.43644773A>G, NC_000010.10:g.44140221A>C, NC_000010.10:g.44140221A>G, NM_001005368.3:c.99T>G, NM_001005368.3:c.99T>C, NM_001005368.2:c.99T>G, NM_001005368.2:c.99T>C, NM_001005368.1:c.99T>G, NM_001005368.1:c.99T>C, NM_006973.3:c.99T>G, NM_006973.3:c.99T>C, NM_006973.2:c.99T>G, NM_006973.2:c.99T>C, NM_001324165.2:c.111T>G, NM_001324165.2:c.111T>C, NM_001324165.1:c.111T>G, NM_001324165.1:c.111T>C, NM_001324168.2:c.24T>G, NM_001324168.2:c.24T>C, NM_001324168.1:c.24T>G, NM_001324168.1:c.24T>C, NM_001324164.2:c.111T>G, NM_001324164.2:c.111T>C, NM_001324164.1:c.111T>G, NM_001324164.1:c.111T>C, NM_001324166.2:c.24T>G, NM_001324166.2:c.24T>C, NM_001324166.1:c.24T>G, NM_001324166.1:c.24T>C, NM_001324167.2:c.24T>G, NM_001324167.2:c.24T>C, NM_001324167.1:c.24T>G, NM_001324167.1:c.24T>C, NP_001005368.1:p.Tyr33Ter, NP_008904.1:p.Tyr33Ter, NP_001311094.1:p.Tyr37Ter, NP_001311097.1:p.Tyr8Ter, NP_001311093.1:p.Tyr37Ter, NP_001311095.1:p.Tyr8Ter, NP_001311096.1:p.Tyr8Ter

Select item 146136672310.

rs1461366723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:43644366 (GRCh38)
10:44139814 (GRCh37)
Canonical SPDI:: NC_000010.11:43644365:C:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.43644366C>G, NC_000010.10:g.44139814C>G, NM_001005368.3:c.506G>C, NM_001005368.2:c.506G>C, NM_001005368.1:c.506G>C, NM_006973.3:c.506G>C, NM_006973.2:c.506G>C, NM_001324165.2:c.518G>C, NM_001324165.1:c.518G>C, NM_001324168.2:c.431G>C, NM_001324168.1:c.431G>C, NM_001324164.2:c.518G>C, NM_001324164.1:c.518G>C, NM_001324166.2:c.431G>C, NM_001324166.1:c.431G>C, NM_001324167.2:c.431G>C, NM_001324167.1:c.431G>C, NP_001005368.1:p.Ser169Thr, NP_008904.1:p.Ser169Thr, NP_001311094.1:p.Ser173Thr, NP_001311097.1:p.Ser144Thr, NP_001311093.1:p.Ser173Thr, NP_001311095.1:p.Ser144Thr, NP_001311096.1:p.Ser144Thr

Select item 146039737111.

rs1460397371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:43644736 (GRCh38)
10:44140184 (GRCh37)
Canonical SPDI:: NC_000010.11:43644735:T:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.43644736T>G, NC_000010.10:g.44140184T>G, NM_001005368.3:c.136A>C, NM_001005368.2:c.136A>C, NM_001005368.1:c.136A>C, NM_006973.3:c.136A>C, NM_006973.2:c.136A>C, NM_001324165.2:c.148A>C, NM_001324165.1:c.148A>C, NM_001324168.2:c.61A>C, NM_001324168.1:c.61A>C, NM_001324164.2:c.148A>C, NM_001324164.1:c.148A>C, NM_001324166.2:c.61A>C, NM_001324166.1:c.61A>C, NM_001324167.2:c.61A>C, NM_001324167.1:c.61A>C, NP_001005368.1:p.Ile46Leu, NP_008904.1:p.Ile46Leu, NP_001311094.1:p.Ile50Leu, NP_001311097.1:p.Ile21Leu, NP_001311093.1:p.Ile50Leu, NP_001311095.1:p.Ile21Leu, NP_001311096.1:p.Ile21Leu

Select item 145971274712.

rs1459712747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:43644468 (GRCh38)
10:44139916 (GRCh37)
Canonical SPDI:: NC_000010.11:43644467:C:T
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644468C>T, NC_000010.10:g.44139916C>T, NM_001005368.3:c.404G>A, NM_001005368.2:c.404G>A, NM_001005368.1:c.404G>A, NM_006973.3:c.404G>A, NM_006973.2:c.404G>A, NM_001324165.2:c.416G>A, NM_001324165.1:c.416G>A, NM_001324168.2:c.329G>A, NM_001324168.1:c.329G>A, NM_001324164.2:c.416G>A, NM_001324164.1:c.416G>A, NM_001324166.2:c.329G>A, NM_001324166.1:c.329G>A, NM_001324167.2:c.329G>A, NM_001324167.1:c.329G>A, NP_001005368.1:p.Cys135Tyr, NP_008904.1:p.Cys135Tyr, NP_001311094.1:p.Cys139Tyr, NP_001311097.1:p.Cys110Tyr, NP_001311093.1:p.Cys139Tyr, NP_001311095.1:p.Cys110Tyr, NP_001311096.1:p.Cys110Tyr

Select item 145493699313.

rs1454936993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:43644658 (GRCh38)
10:44140106 (GRCh37)
Canonical SPDI:: NC_000010.11:43644657:C:A
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.43644658C>A, NC_000010.10:g.44140106C>A, NM_001005368.3:c.214G>T, NM_001005368.2:c.214G>T, NM_001005368.1:c.214G>T, NM_006973.3:c.214G>T, NM_006973.2:c.214G>T, NM_001324165.2:c.226G>T, NM_001324165.1:c.226G>T, NM_001324168.2:c.139G>T, NM_001324168.1:c.139G>T, NM_001324164.2:c.226G>T, NM_001324164.1:c.226G>T, NM_001324166.2:c.139G>T, NM_001324166.1:c.139G>T, NM_001324167.2:c.139G>T, NM_001324167.1:c.139G>T, NP_001005368.1:p.Val72Leu, NP_008904.1:p.Val72Leu, NP_001311094.1:p.Val76Leu, NP_001311097.1:p.Val47Leu, NP_001311093.1:p.Val76Leu, NP_001311095.1:p.Val47Leu, NP_001311096.1:p.Val47Leu

Select item 145450232814.

rs1454502328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:43644337 (GRCh38)
10:44139785 (GRCh37)
Canonical SPDI:: NC_000010.11:43644336:G:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644337G>C, NC_000010.10:g.44139785G>C, NM_001005368.3:c.535C>G, NM_001005368.2:c.535C>G, NM_001005368.1:c.535C>G, NM_006973.3:c.535C>G, NM_006973.2:c.535C>G, NM_001324165.2:c.547C>G, NM_001324165.1:c.547C>G, NM_001324168.2:c.460C>G, NM_001324168.1:c.460C>G, NM_001324164.2:c.547C>G, NM_001324164.1:c.547C>G, NM_001324166.2:c.460C>G, NM_001324166.1:c.460C>G, NM_001324167.2:c.460C>G, NM_001324167.1:c.460C>G, NP_001005368.1:p.His179Asp, NP_008904.1:p.His179Asp, NP_001311094.1:p.His183Asp, NP_001311097.1:p.His154Asp, NP_001311093.1:p.His183Asp, NP_001311095.1:p.His154Asp, NP_001311096.1:p.His154Asp

Select item 144990094815.

rs1449900948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:43644100 (GRCh38)
10:44139548 (GRCh37)
Canonical SPDI:: NC_000010.11:43644099:C:T
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_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_000010.11:g.43644100C>T, NC_000010.10:g.44139548C>T, NM_001005368.3:c.772G>A, NM_001005368.2:c.772G>A, NM_001005368.1:c.772G>A, NM_006973.3:c.772G>A, NM_006973.2:c.772G>A, NM_001324165.2:c.784G>A, NM_001324165.1:c.784G>A, NM_001324168.2:c.697G>A, NM_001324168.1:c.697G>A, NM_001324164.2:c.784G>A, NM_001324164.1:c.784G>A, NM_001324166.2:c.697G>A, NM_001324166.1:c.697G>A, NM_001324167.2:c.697G>A, NM_001324167.1:c.697G>A, NR_047557.1:n.229C>T, NP_001005368.1:p.Gly258Arg, NP_008904.1:p.Gly258Arg, NP_001311094.1:p.Gly262Arg, NP_001311097.1:p.Gly233Arg, NP_001311093.1:p.Gly262Arg, NP_001311095.1:p.Gly233Arg, NP_001311096.1:p.Gly233Arg

Select item 144116916816.

rs1441169168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:43644119 (GRCh38)
10:44139567 (GRCh37)
Canonical SPDI:: NC_000010.11:43644118:T:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.43644119T>C, NC_000010.10:g.44139567T>C, NM_001005368.3:c.753A>G, NM_001005368.2:c.753A>G, NM_001005368.1:c.753A>G, NM_006973.3:c.753A>G, NM_006973.2:c.753A>G, NM_001324165.2:c.765A>G, NM_001324165.1:c.765A>G, NM_001324168.2:c.678A>G, NM_001324168.1:c.678A>G, NM_001324164.2:c.765A>G, NM_001324164.1:c.765A>G, NM_001324166.2:c.678A>G, NM_001324166.1:c.678A>G, NM_001324167.2:c.678A>G, NM_001324167.1:c.678A>G

Select item 143482349817.

rs1434823498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:43644679 (GRCh38)
10:44140127 (GRCh37)
Canonical SPDI:: NC_000010.11:43644678:G:A
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644679G>A, NC_000010.10:g.44140127G>A, NM_001005368.3:c.193C>T, NM_001005368.2:c.193C>T, NM_001005368.1:c.193C>T, NM_006973.3:c.193C>T, NM_006973.2:c.193C>T, NM_001324165.2:c.205C>T, NM_001324165.1:c.205C>T, NM_001324168.2:c.118C>T, NM_001324168.1:c.118C>T, NM_001324164.2:c.205C>T, NM_001324164.1:c.205C>T, NM_001324166.2:c.118C>T, NM_001324166.1:c.118C>T, NM_001324167.2:c.118C>T, NM_001324167.1:c.118C>T

Select item 143473791418.

rs1434737914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:43644306 (GRCh38)
10:44139754 (GRCh37)
Canonical SPDI:: NC_000010.11:43644305:T:C
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644306T>C, NC_000010.10:g.44139754T>C, NM_001005368.3:c.566A>G, NM_001005368.2:c.566A>G, NM_001005368.1:c.566A>G, NM_006973.3:c.566A>G, NM_006973.2:c.566A>G, NM_001324165.2:c.578A>G, NM_001324165.1:c.578A>G, NM_001324168.2:c.491A>G, NM_001324168.1:c.491A>G, NM_001324164.2:c.578A>G, NM_001324164.1:c.578A>G, NM_001324166.2:c.491A>G, NM_001324166.1:c.491A>G, NM_001324167.2:c.491A>G, NM_001324167.1:c.491A>G, NP_001005368.1:p.Tyr189Cys, NP_008904.1:p.Tyr189Cys, NP_001311094.1:p.Tyr193Cys, NP_001311097.1:p.Tyr164Cys, NP_001311093.1:p.Tyr193Cys, NP_001311095.1:p.Tyr164Cys, NP_001311096.1:p.Tyr164Cys

Select item 142843603819.

rs1428436038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:43644657 (GRCh38)
10:44140105 (GRCh37)
Canonical SPDI:: NC_000010.11:43644656:A:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644657A>G, NC_000010.10:g.44140105A>G, NM_001005368.3:c.215T>C, NM_001005368.2:c.215T>C, NM_001005368.1:c.215T>C, NM_006973.3:c.215T>C, NM_006973.2:c.215T>C, NM_001324165.2:c.227T>C, NM_001324165.1:c.227T>C, NM_001324168.2:c.140T>C, NM_001324168.1:c.140T>C, NM_001324164.2:c.227T>C, NM_001324164.1:c.227T>C, NM_001324166.2:c.140T>C, NM_001324166.1:c.140T>C, NM_001324167.2:c.140T>C, NM_001324167.1:c.140T>C, NP_001005368.1:p.Val72Ala, NP_008904.1:p.Val72Ala, NP_001311094.1:p.Val76Ala, NP_001311097.1:p.Val47Ala, NP_001311093.1:p.Val76Ala, NP_001311095.1:p.Val47Ala, NP_001311096.1:p.Val47Ala

Select item 142790683420.

rs1427906834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:43644751 (GRCh38)
10:44140199 (GRCh37)
Canonical SPDI:: NC_000010.11:43644750:A:G
Gene:: ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.43644751A>G, NC_000010.10:g.44140199A>G, NM_001005368.3:c.121T>C, NM_001005368.2:c.121T>C, NM_001005368.1:c.121T>C, NM_006973.3:c.121T>C, NM_006973.2:c.121T>C, NM_001324165.2:c.133T>C, NM_001324165.1:c.133T>C, NM_001324168.2:c.46T>C, NM_001324168.1:c.46T>C, NM_001324164.2:c.133T>C, NM_001324164.1:c.133T>C, NM_001324166.2:c.46T>C, NM_001324166.1:c.46T>C, NM_001324167.2:c.46T>C, NM_001324167.1:c.46T>C, NP_001005368.1:p.Ser41Pro, NP_008904.1:p.Ser41Pro, NP_001311094.1:p.Ser45Pro, NP_001311097.1:p.Ser16Pro, NP_001311093.1:p.Ser45Pro, NP_001311095.1:p.Ser16Pro, NP_001311096.1:p.Ser16Pro

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