SNP Links for Protein (Select 38679914) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112039294 (GRCh38)
12:112477098 (GRCh37)
Canonical SPDI:: NC_000012.12:112039293:G:A
Gene:: NAA25 (Varview), MIR3657 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.112039294G>A, NC_000012.11:g.112477098G>A, NG_017071.1:g.74538C>T, NM_024953.4:c.2584C>T, NM_024953.3:c.2584C>T, XM_006719606.3:c.2500C>T, XM_006719606.2:c.2500C>T, XM_006719606.1:c.2500C>T, XM_047429557.1:c.2176C>T

Select item 147340640312.

rs1473406403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112081124 (GRCh38)
12:112518928 (GRCh37)
Canonical SPDI:: NC_000012.12:112081123:G:A
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.112081124G>A, NC_000012.11:g.112518928G>A, NG_017071.1:g.32708C>T, NM_024953.4:c.413C>T, NM_024953.3:c.413C>T, XR_243023.5:n.423C>T, XR_243023.4:n.444C>T, XR_243023.3:n.662C>T, XR_243023.2:n.662C>T, XR_243023.1:n.662C>T, XR_944731.4:n.423C>T, XR_944731.3:n.444C>T, XR_944731.2:n.662C>T, XR_944731.1:n.662C>T, XR_944730.4:n.423C>T, XR_944730.3:n.444C>T, XR_944730.2:n.662C>T, XR_944730.1:n.662C>T, XM_006719606.3:c.329C>T, XM_006719606.2:c.329C>T, XM_006719606.1:c.329C>T, XM_047429557.1:c.5C>T, NP_079229.2:p.Ala138Val, XP_006719669.1:p.Ala110Val, XP_047285513.1:p.Ala2Val

Select item 147339596313.

rs1473395963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112060316 (GRCh38)
12:112498120 (GRCh37)
Canonical SPDI:: NC_000012.12:112060315:G:A
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112060316G>A, NC_000012.11:g.112498120G>A, NG_017071.1:g.53516C>T, NM_024953.4:c.1401C>T, NM_024953.3:c.1401C>T, XR_243023.5:n.1411C>T, XR_243023.4:n.1432C>T, XR_243023.3:n.1650C>T, XR_243023.2:n.1650C>T, XR_243023.1:n.1650C>T, XR_944731.4:n.1411C>T, XR_944731.3:n.1432C>T, XR_944731.2:n.1650C>T, XR_944731.1:n.1650C>T, XR_944730.4:n.1411C>T, XR_944730.3:n.1432C>T, XR_944730.2:n.1650C>T, XR_944730.1:n.1650C>T, XM_006719606.3:c.1317C>T, XM_006719606.2:c.1317C>T, XM_006719606.1:c.1317C>T, XM_047429557.1:c.993C>T

Select item 147222116514.

rs1472221165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:112078733 (GRCh38)
12:112516537 (GRCh37)
Canonical SPDI:: NC_000012.12:112078732:C:T
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_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_000012.12:g.112078733C>T, NC_000012.11:g.112516537C>T, NG_017071.1:g.35099G>A, NM_024953.4:c.486G>A, NM_024953.3:c.486G>A, XR_243023.5:n.496G>A, XR_243023.4:n.517G>A, XR_243023.3:n.735G>A, XR_243023.2:n.735G>A, XR_243023.1:n.735G>A, XR_944731.4:n.496G>A, XR_944731.3:n.517G>A, XR_944731.2:n.735G>A, XR_944731.1:n.735G>A, XR_944730.4:n.496G>A, XR_944730.3:n.517G>A, XR_944730.2:n.735G>A, XR_944730.1:n.735G>A, XM_006719606.3:c.402G>A, XM_006719606.2:c.402G>A, XM_006719606.1:c.402G>A, XM_047429557.1:c.78G>A

Select item 147103218315.

rs1471032183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:112040499 (GRCh38)
12:112478303 (GRCh37)
Canonical SPDI:: NC_000012.12:112040498:A:T
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.112040499A>T, NC_000012.11:g.112478303A>T, NG_017071.1:g.73333T>A, NM_024953.4:c.2520T>A, NM_024953.3:c.2520T>A, XM_006719606.3:c.2436T>A, XM_006719606.2:c.2436T>A, XM_006719606.1:c.2436T>A, XM_047429557.1:c.2112T>A, NP_079229.2:p.Asn840Lys, XP_006719669.1:p.Asn812Lys, XP_047285513.1:p.Asn704Lys

Select item 146856345616.

rs1468563456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112040515 (GRCh38)
12:112478319 (GRCh37)
Canonical SPDI:: NC_000012.12:112040514:G:A
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.112040515G>A, NC_000012.11:g.112478319G>A, NG_017071.1:g.73317C>T, NM_024953.4:c.2504C>T, NM_024953.3:c.2504C>T, XM_006719606.3:c.2420C>T, XM_006719606.2:c.2420C>T, XM_006719606.1:c.2420C>T, XM_047429557.1:c.2096C>T, NP_079229.2:p.Pro835Leu, XP_006719669.1:p.Pro807Leu, XP_047285513.1:p.Pro699Leu

Select item 146596304117.

rs1465963041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:112043726 (GRCh38)
12:112481530 (GRCh37)
Canonical SPDI:: NC_000012.12:112043725:C:T
Gene:: NAA25 (Varview), LOC124903022 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.112043726C>T, NC_000012.11:g.112481530C>T, NG_017071.1:g.70106G>A, NM_024953.4:c.2149G>A, NM_024953.3:c.2149G>A, XM_006719606.3:c.2065G>A, XM_006719606.2:c.2065G>A, XM_006719606.1:c.2065G>A, XM_047429557.1:c.1741G>A, NP_079229.2:p.Glu717Lys, XP_006719669.1:p.Glu689Lys, XP_047285513.1:p.Glu581Lys

Select item 146441152918.

rs1464411529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:112043140 (GRCh38)
12:112480944 (GRCh37)
Canonical SPDI:: NC_000012.12:112043139:T:C
Gene:: NAA25 (Varview), LOC124903022 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.112043140T>C, NC_000012.11:g.112480944T>C, NG_017071.1:g.70692A>G, NM_024953.4:c.2322A>G, NM_024953.3:c.2322A>G, XM_006719606.3:c.2238A>G, XM_006719606.2:c.2238A>G, XM_006719606.1:c.2238A>G, XM_047429557.1:c.1914A>G, NP_079229.2:p.Ile774Met, XP_006719669.1:p.Ile746Met, XP_047285513.1:p.Ile638Met

Select item 146414319819.

rs1464143198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:112075725 (GRCh38)
12:112513529 (GRCh37)
Canonical SPDI:: NC_000012.12:112075724:G:C
Gene:: NAA25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.112075725G>C, NC_000012.11:g.112513529G>C, NG_017071.1:g.38107C>G, NM_024953.4:c.729C>G, NM_024953.3:c.729C>G, XR_243023.5:n.739C>G, XR_243023.4:n.760C>G, XR_243023.3:n.978C>G, XR_243023.2:n.978C>G, XR_243023.1:n.978C>G, XR_944731.4:n.739C>G, XR_944731.3:n.760C>G, XR_944731.2:n.978C>G, XR_944731.1:n.978C>G, XR_944730.4:n.739C>G, XR_944730.3:n.760C>G, XR_944730.2:n.978C>G, XR_944730.1:n.978C>G, XM_006719606.3:c.645C>G, XM_006719606.2:c.645C>G, XM_006719606.1:c.645C>G, XM_047429557.1:c.321C>G, NP_079229.2:p.Ser243Arg, XP_006719669.1:p.Ser215Arg, XP_047285513.1:p.Ser107Arg

Select item 146352834220.

rs1463528342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112072025 (GRCh38)
12:112509829 (GRCh37)
Canonical SPDI:: NC_000012.12:112072024:A:G
Gene:: NAA25 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112072025A>G, NC_000012.11:g.112509829A>G, NG_017071.1:g.41807T>C, NM_024953.4:c.906T>C, NM_024953.3:c.906T>C, XR_243023.5:n.916T>C, XR_243023.4:n.937T>C, XR_243023.3:n.1155T>C, XR_243023.2:n.1155T>C, XR_243023.1:n.1155T>C, XR_944731.4:n.916T>C, XR_944731.3:n.937T>C, XR_944731.2:n.1155T>C, XR_944731.1:n.1155T>C, XR_944730.4:n.916T>C, XR_944730.3:n.937T>C, XR_944730.2:n.1155T>C, XR_944730.1:n.1155T>C, XM_006719606.3:c.822T>C, XM_006719606.2:c.822T>C, XM_006719606.1:c.822T>C, XM_047429557.1:c.498T>C

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