SNP Links for Protein (Select 666335641) - SNP

Select item 14889304311.

rs1488930431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:93399223 (GRCh38)
12:93792999 (GRCh37)
Canonical SPDI:: NC_000012.12:93399222:C:A,NC_000012.12:93399222:C:T
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.93399223C>A, NC_000012.12:g.93399223C>T, NC_000012.11:g.93792999C>A, NC_000012.11:g.93792999C>T, NG_029507.1:g.26299C>A, NG_029507.1:g.26299C>T, NM_019094.5:c.387C>A, NM_019094.5:c.387C>T, NM_019094.6:c.387C>A, NM_019094.6:c.387C>T, NM_019094.4:c.387C>A, NM_019094.4:c.387C>T, NM_199040.3:c.390C>A, NM_199040.3:c.390C>T, NM_199040.4:c.390C>A, NM_199040.4:c.390C>T, NM_199040.2:c.390C>A, NM_199040.2:c.390C>T, NM_001301022.1:c.234C>A, NM_001301022.1:c.234C>T, NM_001301022.2:c.234C>A, NM_001301022.2:c.234C>T, NM_001301023.1:c.231C>A, NM_001301023.1:c.231C>T, NM_001301023.2:c.231C>A, NM_001301023.2:c.231C>T, NM_001301024.1:c.231C>A, NM_001301024.1:c.231C>T, NM_001301024.2:c.231C>A, NM_001301024.2:c.231C>T, XM_047428136.1:c.234C>A, XM_047428136.1:c.234C>T, XM_047428137.1:c.234C>A, XM_047428137.1:c.234C>T, XM_047428135.1:c.234C>A, XM_047428135.1:c.234C>T, XM_047428138.1:c.231C>A, XM_047428138.1:c.231C>T

Select item 14668599822.

rs1466859982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93399292 (GRCh38)
12:93793068 (GRCh37)
Canonical SPDI:: NC_000012.12:93399291:A:G
Gene:: NUDT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.93399292A>G, NC_000012.11:g.93793068A>G, NG_029507.1:g.26368A>G, NM_019094.5:c.456A>G, NM_019094.6:c.456A>G, NM_019094.4:c.456A>G, NM_199040.3:c.459A>G, NM_199040.4:c.459A>G, NM_199040.2:c.459A>G, NM_001301022.1:c.303A>G, NM_001301022.2:c.303A>G, NM_001301023.1:c.300A>G, NM_001301023.2:c.300A>G, NM_001301024.1:c.300A>G, NM_001301024.2:c.300A>G, XM_047428136.1:c.303A>G, XM_047428137.1:c.303A>G, XM_047428135.1:c.303A>G, XM_047428138.1:c.300A>G

Select item 14608455983.

rs1460845598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93399215 (GRCh38)
12:93792991 (GRCh37)
Canonical SPDI:: NC_000012.12:93399214:A:G
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93399215A>G, NC_000012.11:g.93792991A>G, NG_029507.1:g.26291A>G, NM_019094.5:c.379A>G, NM_019094.6:c.379A>G, NM_019094.4:c.379A>G, NM_199040.3:c.382A>G, NM_199040.4:c.382A>G, NM_199040.2:c.382A>G, NM_001301022.1:c.226A>G, NM_001301022.2:c.226A>G, NM_001301023.1:c.223A>G, NM_001301023.2:c.223A>G, NM_001301024.1:c.223A>G, NM_001301024.2:c.223A>G, XM_047428136.1:c.226A>G, XM_047428137.1:c.226A>G, XM_047428135.1:c.226A>G, XM_047428138.1:c.223A>G, NP_061967.3:p.Lys127Glu, NP_950241.1:p.Lys128Glu, NP_001287951.1:p.Lys76Glu, NP_001287952.1:p.Lys75Glu, NP_001287953.1:p.Lys75Glu, XP_047284092.1:p.Lys76Glu, XP_047284093.1:p.Lys76Glu, XP_047284091.1:p.Lys76Glu, XP_047284094.1:p.Lys75Glu

Select item 14581096654.

rs1458109665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:93399245 (GRCh38)
12:93793021 (GRCh37)
Canonical SPDI:: NC_000012.12:93399244:G:T
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.93399245G>T, NC_000012.11:g.93793021G>T, NG_029507.1:g.26321G>T, NM_019094.5:c.409G>T, NM_019094.6:c.409G>T, NM_019094.4:c.409G>T, NM_199040.3:c.412G>T, NM_199040.4:c.412G>T, NM_199040.2:c.412G>T, NM_001301022.1:c.256G>T, NM_001301022.2:c.256G>T, NM_001301023.1:c.253G>T, NM_001301023.2:c.253G>T, NM_001301024.1:c.253G>T, NM_001301024.2:c.253G>T, XM_047428136.1:c.256G>T, XM_047428137.1:c.256G>T, XM_047428135.1:c.256G>T, XM_047428138.1:c.253G>T, NP_061967.3:p.Ala137Ser, NP_950241.1:p.Ala138Ser, NP_001287951.1:p.Ala86Ser, NP_001287952.1:p.Ala85Ser, NP_001287953.1:p.Ala85Ser, XP_047284092.1:p.Ala86Ser, XP_047284093.1:p.Ala86Ser, XP_047284091.1:p.Ala86Ser, XP_047284094.1:p.Ala85Ser

Select item 14505100375.

rs1450510037 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:93399314 (GRCh38)
12:93793090 (GRCh37)
Canonical SPDI:: NC_000012.12:93399313:CC:C
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000078/10 (GnomAD)
-=0.001093/7 (1000Genomes)
HGVS:: NC_000012.12:g.93399315del, NC_000012.11:g.93793091del, NG_029507.1:g.26391del, NM_019094.5:c.479del, NM_019094.6:c.479del, NM_019094.4:c.479del, NM_199040.3:c.482del, NM_199040.4:c.482del, NM_199040.2:c.482del, NM_001301022.1:c.326del, NM_001301022.2:c.326del, NM_001301023.1:c.323del, NM_001301023.2:c.323del, NM_001301024.1:c.323del, NM_001301024.2:c.323del, XM_047428136.1:c.326del, XM_047428137.1:c.326del, XM_047428135.1:c.326del, XM_047428138.1:c.323del, NP_061967.3:p.Pro160fs, NP_950241.1:p.Pro161fs, NP_001287951.1:p.Pro109fs, NP_001287952.1:p.Pro108fs, NP_001287953.1:p.Pro108fs, XP_047284092.1:p.Pro109fs, XP_047284093.1:p.Pro109fs, XP_047284091.1:p.Pro109fs, XP_047284094.1:p.Pro108fs

Select item 14434279756.

rs1443427975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93399352 (GRCh38)
12:93793128 (GRCh37)
Canonical SPDI:: NC_000012.12:93399351:C:T
Gene:: NUDT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.93399352C>T, NC_000012.11:g.93793128C>T, NG_029507.1:g.26428C>T, NM_019094.5:c.516C>T, NM_019094.6:c.516C>T, NM_019094.4:c.516C>T, NM_199040.3:c.519C>T, NM_199040.4:c.519C>T, NM_199040.2:c.519C>T, NM_001301022.1:c.363C>T, NM_001301022.2:c.363C>T, NM_001301023.1:c.360C>T, NM_001301023.2:c.360C>T, NM_001301024.1:c.360C>T, NM_001301024.2:c.360C>T, XM_047428136.1:c.363C>T, XM_047428137.1:c.363C>T, XM_047428135.1:c.363C>T, XM_047428138.1:c.360C>T

Select item 14308628337.

rs1430862833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:93394713 (GRCh38)
12:93788489 (GRCh37)
Canonical SPDI:: NC_000012.12:93394712:T:C
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.93394713T>C, NC_000012.11:g.93788489T>C, NG_029507.1:g.21789T>C, NM_019094.5:c.204T>C, NM_019094.6:c.204T>C, NM_019094.4:c.204T>C, NM_199040.3:c.204T>C, NM_199040.4:c.204T>C, NM_199040.2:c.204T>C, NM_001301022.1:c.48T>C, NM_001301022.2:c.48T>C, NM_001301023.1:c.48T>C, NM_001301023.2:c.48T>C, NM_001301024.1:c.48T>C, NM_001301024.2:c.48T>C, XM_047428136.1:c.48T>C, XM_047428137.1:c.48T>C, XM_047428135.1:c.48T>C, XM_047428138.1:c.48T>C

Select item 14232802738.

rs1423280273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93399239 (GRCh38)
12:93793015 (GRCh37)
Canonical SPDI:: NC_000012.12:93399238:G:A
Gene:: NUDT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.93399239G>A, NC_000012.11:g.93793015G>A, NG_029507.1:g.26315G>A, NM_019094.5:c.403G>A, NM_019094.6:c.403G>A, NM_019094.4:c.403G>A, NM_199040.3:c.406G>A, NM_199040.4:c.406G>A, NM_199040.2:c.406G>A, NM_001301022.1:c.250G>A, NM_001301022.2:c.250G>A, NM_001301023.1:c.247G>A, NM_001301023.2:c.247G>A, NM_001301024.1:c.247G>A, NM_001301024.2:c.247G>A, XM_047428136.1:c.250G>A, XM_047428137.1:c.250G>A, XM_047428135.1:c.250G>A, XM_047428138.1:c.247G>A, NP_061967.3:p.Val135Ile, NP_950241.1:p.Val136Ile, NP_001287951.1:p.Val84Ile, NP_001287952.1:p.Val83Ile, NP_001287953.1:p.Val83Ile, XP_047284092.1:p.Val84Ile, XP_047284093.1:p.Val84Ile, XP_047284091.1:p.Val84Ile, XP_047284094.1:p.Val83Ile

Select item 14209122329.

rs1420912232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:93399229 (GRCh38)
12:93793005 (GRCh37)
Canonical SPDI:: NC_000012.12:93399228:T:C
Gene:: NUDT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93399229T>C, NC_000012.11:g.93793005T>C, NG_029507.1:g.26305T>C, NM_019094.5:c.393T>C, NM_019094.6:c.393T>C, NM_019094.4:c.393T>C, NM_199040.3:c.396T>C, NM_199040.4:c.396T>C, NM_199040.2:c.396T>C, NM_001301022.1:c.240T>C, NM_001301022.2:c.240T>C, NM_001301023.1:c.237T>C, NM_001301023.2:c.237T>C, NM_001301024.1:c.237T>C, NM_001301024.2:c.237T>C, XM_047428136.1:c.240T>C, XM_047428137.1:c.240T>C, XM_047428135.1:c.240T>C, XM_047428138.1:c.237T>C

Select item 141653488510.

rs1416534885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93399320 (GRCh38)
12:93793096 (GRCh37)
Canonical SPDI:: NC_000012.12:93399319:A:G
Gene:: NUDT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.93399320A>G, NC_000012.11:g.93793096A>G, NG_029507.1:g.26396A>G, NM_019094.5:c.484A>G, NM_019094.6:c.484A>G, NM_019094.4:c.484A>G, NM_199040.3:c.487A>G, NM_199040.4:c.487A>G, NM_199040.2:c.487A>G, NM_001301022.1:c.331A>G, NM_001301022.2:c.331A>G, NM_001301023.1:c.328A>G, NM_001301023.2:c.328A>G, NM_001301024.1:c.328A>G, NM_001301024.2:c.328A>G, XM_047428136.1:c.331A>G, XM_047428137.1:c.331A>G, XM_047428135.1:c.331A>G, XM_047428138.1:c.328A>G, NP_061967.3:p.Asn162Asp, NP_950241.1:p.Asn163Asp, NP_001287951.1:p.Asn111Asp, NP_001287952.1:p.Asn110Asp, NP_001287953.1:p.Asn110Asp, XP_047284092.1:p.Asn111Asp, XP_047284093.1:p.Asn111Asp, XP_047284091.1:p.Asn111Asp, XP_047284094.1:p.Asn110Asp

Select item 137976284211.

rs1379762842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93399299 (GRCh38)
12:93793075 (GRCh37)
Canonical SPDI:: NC_000012.12:93399298:A:G
Gene:: NUDT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.93399299A>G, NC_000012.11:g.93793075A>G, NG_029507.1:g.26375A>G, NM_019094.5:c.463A>G, NM_019094.6:c.463A>G, NM_019094.4:c.463A>G, NM_199040.3:c.466A>G, NM_199040.4:c.466A>G, NM_199040.2:c.466A>G, NM_001301022.1:c.310A>G, NM_001301022.2:c.310A>G, NM_001301023.1:c.307A>G, NM_001301023.2:c.307A>G, NM_001301024.1:c.307A>G, NM_001301024.2:c.307A>G, XM_047428136.1:c.310A>G, XM_047428137.1:c.310A>G, XM_047428135.1:c.310A>G, XM_047428138.1:c.307A>G, NP_061967.3:p.Thr155Ala, NP_950241.1:p.Thr156Ala, NP_001287951.1:p.Thr104Ala, NP_001287952.1:p.Thr103Ala, NP_001287953.1:p.Thr103Ala, XP_047284092.1:p.Thr104Ala, XP_047284093.1:p.Thr104Ala, XP_047284091.1:p.Thr104Ala, XP_047284094.1:p.Thr103Ala

Select item 137788558212.

rs1377885582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93394687 (GRCh38)
12:93788463 (GRCh37)
Canonical SPDI:: NC_000012.12:93394686:G:A
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93394687G>A, NC_000012.11:g.93788463G>A, NG_029507.1:g.21763G>A, NM_019094.5:c.178G>A, NM_019094.6:c.178G>A, NM_019094.4:c.178G>A, NM_199040.3:c.178G>A, NM_199040.4:c.178G>A, NM_199040.2:c.178G>A, NM_001301022.1:c.22G>A, NM_001301022.2:c.22G>A, NM_001301023.1:c.22G>A, NM_001301023.2:c.22G>A, NM_001301024.1:c.22G>A, NM_001301024.2:c.22G>A, XM_047428136.1:c.22G>A, XM_047428137.1:c.22G>A, XM_047428135.1:c.22G>A, XM_047428138.1:c.22G>A, NP_061967.3:p.Gly60Ser, NP_950241.1:p.Gly60Ser, NP_001287951.1:p.Gly8Ser, NP_001287952.1:p.Gly8Ser, NP_001287953.1:p.Gly8Ser, XP_047284092.1:p.Gly8Ser, XP_047284093.1:p.Gly8Ser, XP_047284091.1:p.Gly8Ser, XP_047284094.1:p.Gly8Ser

Select item 137058094113.

rs1370580941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:93399261 (GRCh38)
12:93793037 (GRCh37)
Canonical SPDI:: NC_000012.12:93399260:A:T
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.93399261A>T, NC_000012.11:g.93793037A>T, NG_029507.1:g.26337A>T, NM_019094.5:c.425A>T, NM_019094.6:c.425A>T, NM_019094.4:c.425A>T, NM_199040.3:c.428A>T, NM_199040.4:c.428A>T, NM_199040.2:c.428A>T, NM_001301022.1:c.272A>T, NM_001301022.2:c.272A>T, NM_001301023.1:c.269A>T, NM_001301023.2:c.269A>T, NM_001301024.1:c.269A>T, NM_001301024.2:c.269A>T, XM_047428136.1:c.272A>T, XM_047428137.1:c.272A>T, XM_047428135.1:c.272A>T, XM_047428138.1:c.269A>T, NP_061967.3:p.Lys142Met, NP_950241.1:p.Lys143Met, NP_001287951.1:p.Lys91Met, NP_001287952.1:p.Lys90Met, NP_001287953.1:p.Lys90Met, XP_047284092.1:p.Lys91Met, XP_047284093.1:p.Lys91Met, XP_047284091.1:p.Lys91Met, XP_047284094.1:p.Lys90Met

Select item 137018284914.

rs1370182849 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 12:93399246 (GRCh38)
12:93793023 (GRCh37)
Canonical SPDI:: NC_000012.12:93399246:AGAG:AGAGAG
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.93399247AG[3], NC_000012.11:g.93793023AG[3], NG_029507.1:g.26323AG[3], NM_019094.5:c.413_414dup, NM_019094.6:c.413_414dup, NM_019094.4:c.413_414dup, NM_199040.3:c.416_417dup, NM_199040.4:c.416_417dup, NM_199040.2:c.416_417dup, NM_001301022.1:c.260_261dup, NM_001301022.2:c.260_261dup, NM_001301023.1:c.257_258dup, NM_001301023.2:c.257_258dup, NM_001301024.1:c.257_258dup, NM_001301024.2:c.257_258dup, XM_047428136.1:c.260_261dup, XM_047428137.1:c.260_261dup, XM_047428135.1:c.260_261dup, XM_047428138.1:c.257_258dup, NP_061967.3:p.Tyr139fs, NP_950241.1:p.Tyr140fs, NP_001287951.1:p.Tyr88fs, NP_001287952.1:p.Tyr87fs, NP_001287953.1:p.Tyr87fs, XP_047284092.1:p.Tyr88fs, XP_047284093.1:p.Tyr88fs, XP_047284091.1:p.Tyr88fs, XP_047284094.1:p.Tyr87fs

Select item 136351757615.

rs1363517576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:93394717 (GRCh38)
12:93788493 (GRCh37)
Canonical SPDI:: NC_000012.12:93394716:G:C
Gene:: NUDT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93394717G>C, NC_000012.11:g.93788493G>C, NG_029507.1:g.21793G>C, NM_019094.5:c.208G>C, NM_019094.6:c.208G>C, NM_019094.4:c.208G>C, NM_199040.3:c.208G>C, NM_199040.4:c.208G>C, NM_199040.2:c.208G>C, NM_001301022.1:c.52G>C, NM_001301022.2:c.52G>C, NM_001301023.1:c.52G>C, NM_001301023.2:c.52G>C, NM_001301024.1:c.52G>C, NM_001301024.2:c.52G>C, XM_047428136.1:c.52G>C, XM_047428137.1:c.52G>C, XM_047428135.1:c.52G>C, XM_047428138.1:c.52G>C, NP_061967.3:p.Glu70Gln, NP_950241.1:p.Glu70Gln, NP_001287951.1:p.Glu18Gln, NP_001287952.1:p.Glu18Gln, NP_001287953.1:p.Glu18Gln, XP_047284092.1:p.Glu18Gln, XP_047284093.1:p.Glu18Gln, XP_047284091.1:p.Glu18Gln, XP_047284094.1:p.Glu18Gln

Select item 135973318516.

rs1359733185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93399331 (GRCh38)
12:93793107 (GRCh37)
Canonical SPDI:: NC_000012.12:93399330:G:A
Gene:: NUDT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.93399331G>A, NC_000012.11:g.93793107G>A, NG_029507.1:g.26407G>A, NM_019094.5:c.495G>A, NM_019094.6:c.495G>A, NM_019094.4:c.495G>A, NM_199040.3:c.498G>A, NM_199040.4:c.498G>A, NM_199040.2:c.498G>A, NM_001301022.1:c.342G>A, NM_001301022.2:c.342G>A, NM_001301023.1:c.339G>A, NM_001301023.2:c.339G>A, NM_001301024.1:c.339G>A, NM_001301024.2:c.339G>A, XM_047428136.1:c.342G>A, XM_047428137.1:c.342G>A, XM_047428135.1:c.342G>A, XM_047428138.1:c.339G>A

Select item 135245832317.

rs1352458323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:93399291 (GRCh38)
12:93793067 (GRCh37)
Canonical SPDI:: NC_000012.12:93399290:G:C
Gene:: NUDT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00019/4 (ALFA)
HGVS:: NC_000012.12:g.93399291G>C, NC_000012.11:g.93793067G>C, NG_029507.1:g.26367G>C, NM_019094.5:c.455G>C, NM_019094.6:c.455G>C, NM_019094.4:c.455G>C, NM_199040.3:c.458G>C, NM_199040.4:c.458G>C, NM_199040.2:c.458G>C, NM_001301022.1:c.302G>C, NM_001301022.2:c.302G>C, NM_001301023.1:c.299G>C, NM_001301023.2:c.299G>C, NM_001301024.1:c.299G>C, NM_001301024.2:c.299G>C, XM_047428136.1:c.302G>C, XM_047428137.1:c.302G>C, XM_047428135.1:c.302G>C, XM_047428138.1:c.299G>C, NP_061967.3:p.Gly152Ala, NP_950241.1:p.Gly153Ala, NP_001287951.1:p.Gly101Ala, NP_001287952.1:p.Gly100Ala, NP_001287953.1:p.Gly100Ala, XP_047284092.1:p.Gly101Ala, XP_047284093.1:p.Gly101Ala, XP_047284091.1:p.Gly101Ala, XP_047284094.1:p.Gly100Ala

Select item 134820280118.

rs1348202801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:93399258 (GRCh38)
12:93793034 (GRCh37)
Canonical SPDI:: NC_000012.12:93399257:A:C,NC_000012.12:93399257:A:G
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.93399258A>C, NC_000012.12:g.93399258A>G, NC_000012.11:g.93793034A>C, NC_000012.11:g.93793034A>G, NG_029507.1:g.26334A>C, NG_029507.1:g.26334A>G, NM_019094.5:c.422A>C, NM_019094.5:c.422A>G, NM_019094.6:c.422A>C, NM_019094.6:c.422A>G, NM_019094.4:c.422A>C, NM_019094.4:c.422A>G, NM_199040.3:c.425A>C, NM_199040.3:c.425A>G, NM_199040.4:c.425A>C, NM_199040.4:c.425A>G, NM_199040.2:c.425A>C, NM_199040.2:c.425A>G, NM_001301022.1:c.269A>C, NM_001301022.1:c.269A>G, NM_001301022.2:c.269A>C, NM_001301022.2:c.269A>G, NM_001301023.1:c.266A>C, NM_001301023.1:c.266A>G, NM_001301023.2:c.266A>C, NM_001301023.2:c.266A>G, NM_001301024.1:c.266A>C, NM_001301024.1:c.266A>G, NM_001301024.2:c.266A>C, NM_001301024.2:c.266A>G, XM_047428136.1:c.269A>C, XM_047428136.1:c.269A>G, XM_047428137.1:c.269A>C, XM_047428137.1:c.269A>G, XM_047428135.1:c.269A>C, XM_047428135.1:c.269A>G, XM_047428138.1:c.266A>C, XM_047428138.1:c.266A>G, NP_061967.3:p.Glu141Ala, NP_061967.3:p.Glu141Gly, NP_950241.1:p.Glu142Ala, NP_950241.1:p.Glu142Gly, NP_001287951.1:p.Glu90Ala, NP_001287951.1:p.Glu90Gly, NP_001287952.1:p.Glu89Ala, NP_001287952.1:p.Glu89Gly, NP_001287953.1:p.Glu89Ala, NP_001287953.1:p.Glu89Gly, XP_047284092.1:p.Glu90Ala, XP_047284092.1:p.Glu90Gly, XP_047284093.1:p.Glu90Ala, XP_047284093.1:p.Glu90Gly, XP_047284091.1:p.Glu90Ala, XP_047284091.1:p.Glu90Gly, XP_047284094.1:p.Glu89Ala, XP_047284094.1:p.Glu89Gly

Select item 134394174219.

rs1343941742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:93399370 (GRCh38)
12:93793146 (GRCh37)
Canonical SPDI:: NC_000012.12:93399369:T:C
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.93399370T>C, NC_000012.11:g.93793146T>C, NG_029507.1:g.26446T>C, NM_019094.5:c.534T>C, NM_019094.6:c.534T>C, NM_019094.4:c.534T>C, NM_199040.3:c.537T>C, NM_199040.4:c.537T>C, NM_199040.2:c.537T>C, NM_001301022.1:c.381T>C, NM_001301022.2:c.381T>C, NM_001301023.1:c.378T>C, NM_001301023.2:c.378T>C, NM_001301024.1:c.378T>C, NM_001301024.2:c.378T>C, XM_047428136.1:c.381T>C, XM_047428137.1:c.381T>C, XM_047428135.1:c.381T>C, XM_047428138.1:c.378T>C

Select item 134208115620.

rs1342081156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:93399337 (GRCh38)
12:93793113 (GRCh37)
Canonical SPDI:: NC_000012.12:93399336:A:C,NC_000012.12:93399336:A:T
Gene:: NUDT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.93399337A>C, NC_000012.12:g.93399337A>T, NC_000012.11:g.93793113A>C, NC_000012.11:g.93793113A>T, NG_029507.1:g.26413A>C, NG_029507.1:g.26413A>T, NM_019094.5:c.501A>C, NM_019094.5:c.501A>T, NM_019094.6:c.501A>C, NM_019094.6:c.501A>T, NM_019094.4:c.501A>C, NM_019094.4:c.501A>T, NM_199040.3:c.504A>C, NM_199040.3:c.504A>T, NM_199040.4:c.504A>C, NM_199040.4:c.504A>T, NM_199040.2:c.504A>C, NM_199040.2:c.504A>T, NM_001301022.1:c.348A>C, NM_001301022.1:c.348A>T, NM_001301022.2:c.348A>C, NM_001301022.2:c.348A>T, NM_001301023.1:c.345A>C, NM_001301023.1:c.345A>T, NM_001301023.2:c.345A>C, NM_001301023.2:c.345A>T, NM_001301024.1:c.345A>C, NM_001301024.1:c.345A>T, NM_001301024.2:c.345A>C, NM_001301024.2:c.345A>T, XM_047428136.1:c.348A>C, XM_047428136.1:c.348A>T, XM_047428137.1:c.348A>C, XM_047428137.1:c.348A>T, XM_047428135.1:c.348A>C, XM_047428135.1:c.348A>T, XM_047428138.1:c.345A>C, XM_047428138.1:c.345A>T

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Result Filters

Validation Status

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Custom range

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Items: 1 to 20 of 144

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