SNP Links for Protein (Select 300388183) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231138759 (GRCh38)
2:232003473 (GRCh37)
Canonical SPDI:: NC_000002.12:231138758:T:C
Gene:: PSMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.231138759T>C, NC_000002.11:g.232003473T>C, NM_002807.4:c.1907T>C, NM_002807.3:c.1907T>C, NM_001191037.2:c.1907T>C, NM_001191037.1:c.1907T>C, NR_034059.2:n.1896T>C, NR_034059.1:n.1899T>C, NP_002798.2:p.Val636Ala, NP_001177966.1:p.Val636Ala

Select item 14832131728.

rs1483213172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231072209 (GRCh38)
2:231936923 (GRCh37)
Canonical SPDI:: NC_000002.12:231072208:T:C
Gene:: PSMD1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.231072209T>C, NC_000002.11:g.231936923T>C, NM_002807.4:c.675T>C, NM_002807.3:c.675T>C, XM_017004517.3:c.675T>C, XM_017004517.2:c.675T>C, XM_017004517.1:c.675T>C, NM_001191037.2:c.675T>C, NM_001191037.1:c.675T>C, NR_034059.2:n.664T>C, NR_034059.1:n.667T>C

Select item 14811457819.

rs1481145781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231170629 (GRCh38)
2:232035343 (GRCh37)
Canonical SPDI:: NC_000002.12:231170628:C:T
Gene:: PSMD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231170629C>T, NC_000002.11:g.232035343C>T, NM_002807.4:c.2779C>T, NM_002807.3:c.2779C>T, NM_001191037.2:c.2686C>T, NM_001191037.1:c.2686C>T, NR_034059.2:n.2768C>T, NR_034059.1:n.2771C>T, NP_002798.2:p.Pro927Ser, NP_001177966.1:p.Pro896Ser

Select item 148059323210.

rs1480593232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231170606 (GRCh38)
2:232035320 (GRCh37)
Canonical SPDI:: NC_000002.12:231170605:A:G
Gene:: PSMD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.231170606A>G, NC_000002.11:g.232035320A>G, NM_002807.4:c.2756A>G, NM_002807.3:c.2756A>G, NM_001191037.2:c.2663A>G, NM_001191037.1:c.2663A>G, NR_034059.2:n.2745A>G, NR_034059.1:n.2748A>G, NP_002798.2:p.Glu919Gly, NP_001177966.1:p.Glu888Gly

Select item 148031714311.

rs1480317143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:231072407 (GRCh38)
2:231937121 (GRCh37)
Canonical SPDI:: NC_000002.12:231072406:G:T
Gene:: PSMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.231072407G>T, NC_000002.11:g.231937121G>T, NM_002807.4:c.873G>T, NM_002807.3:c.873G>T, XM_017004517.3:c.873G>T, XM_017004517.2:c.873G>T, XM_017004517.1:c.873G>T, NM_001191037.2:c.873G>T, NM_001191037.1:c.873G>T, NR_034059.2:n.862G>T, NR_034059.1:n.865G>T, NP_002798.2:p.Glu291Asp, XP_016860006.1:p.Glu291Asp, NP_001177966.1:p.Glu291Asp

Select item 147729194112.

rs1477291941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231062659 (GRCh38)
2:231927373 (GRCh37)
Canonical SPDI:: NC_000002.12:231062658:T:C
Gene:: PSMD1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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_000002.12:g.231062659T>C, NC_000002.11:g.231927373T>C, NM_002807.4:c.288T>C, NM_002807.3:c.288T>C, XM_017004517.3:c.288T>C, XM_017004517.2:c.288T>C, XM_017004517.1:c.288T>C, NM_001191037.2:c.288T>C, NM_001191037.1:c.288T>C

Select item 147724871213.

rs1477248712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231165269 (GRCh38)
2:232029983 (GRCh37)
Canonical SPDI:: NC_000002.12:231165268:G:A
Gene:: PSMD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231165269G>A, NC_000002.11:g.232029983G>A, NM_002807.4:c.2551G>A, NM_002807.3:c.2551G>A, NM_001191037.2:c.2458G>A, NM_001191037.1:c.2458G>A, NR_034059.2:n.2540G>A, NR_034059.1:n.2543G>A, NP_002798.2:p.Glu851Lys, NP_001177966.1:p.Glu820Lys

Select item 147692332814.

rs1476923328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231161387 (GRCh38)
2:232026101 (GRCh37)
Canonical SPDI:: NC_000002.12:231161386:C:T
Gene:: PSMD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231161387C>T, NC_000002.11:g.232026101C>T, NM_002807.4:c.2266C>T, NM_002807.3:c.2266C>T, NM_001191037.2:c.2266C>T, NM_001191037.1:c.2266C>T, NR_034059.2:n.2255C>T, NR_034059.1:n.2258C>T, NP_002798.2:p.His756Tyr, NP_001177966.1:p.His756Tyr

Select item 147029500715.

rs1470295007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231067058 (GRCh38)
2:231931772 (GRCh37)
Canonical SPDI:: NC_000002.12:231067057:A:G
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231067058A>G, NC_000002.11:g.231931772A>G, NM_002807.4:c.457A>G, NM_002807.3:c.457A>G, XM_017004517.3:c.457A>G, XM_017004517.2:c.457A>G, XM_017004517.1:c.457A>G, NM_001191037.2:c.457A>G, NM_001191037.1:c.457A>G, NR_034059.2:n.446A>G, NR_034059.1:n.449A>G, NP_002798.2:p.Ile153Val, XP_016860006.1:p.Ile153Val, NP_001177966.1:p.Ile153Val

Select item 146936041516.

rs1469360415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:231070101 (GRCh38)
2:231934815 (GRCh37)
Canonical SPDI:: NC_000002.12:231070100:A:T
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.231070101A>T, NC_000002.11:g.231934815A>T, NM_002807.4:c.587A>T, NM_002807.3:c.587A>T, XM_017004517.3:c.587A>T, XM_017004517.2:c.587A>T, XM_017004517.1:c.587A>T, NM_001191037.2:c.587A>T, NM_001191037.1:c.587A>T, NR_034059.2:n.576A>T, NR_034059.1:n.579A>T, NP_002798.2:p.Lys196Ile, XP_016860006.1:p.Lys196Ile, NP_001177966.1:p.Lys196Ile

Select item 146587709017.

rs1465877090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231083677 (GRCh38)
2:231948391 (GRCh37)
Canonical SPDI:: NC_000002.12:231083676:C:T
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231083677C>T, NC_000002.11:g.231948391C>T, NM_002807.4:c.1636C>T, NM_002807.3:c.1636C>T, XM_017004517.3:c.1636C>T, XM_017004517.2:c.1636C>T, XM_017004517.1:c.1636C>T, NM_001191037.2:c.1636C>T, NM_001191037.1:c.1636C>T, NR_034059.2:n.1625C>T, NR_034059.1:n.1628C>T, NP_002798.2:p.Arg546Cys, XP_016860006.1:p.Arg546Cys, NP_001177966.1:p.Arg546Cys

Select item 146493272518.

rs1464932725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231138826 (GRCh38)
2:232003540 (GRCh37)
Canonical SPDI:: NC_000002.12:231138825:A:G
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231138826A>G, NC_000002.11:g.232003540A>G, NM_002807.4:c.1974A>G, NM_002807.3:c.1974A>G, NM_001191037.2:c.1974A>G, NM_001191037.1:c.1974A>G, NR_034059.2:n.1963A>G, NR_034059.1:n.1966A>G, NP_002798.2:p.Ile658Met, NP_001177966.1:p.Ile658Met

Select item 146481892519.

rs1464818925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231080221 (GRCh38)
2:231944935 (GRCh37)
Canonical SPDI:: NC_000002.12:231080220:T:C
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231080221T>C, NC_000002.11:g.231944935T>C, NM_002807.4:c.1320T>C, NM_002807.3:c.1320T>C, XM_017004517.3:c.1320T>C, XM_017004517.2:c.1320T>C, XM_017004517.1:c.1320T>C, NM_001191037.2:c.1320T>C, NM_001191037.1:c.1320T>C, NR_034059.2:n.1309T>C, NR_034059.1:n.1312T>C

Select item 146462655620.

rs1464626556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231080282 (GRCh38)
2:231944996 (GRCh37)
Canonical SPDI:: NC_000002.12:231080281:C:T
Gene:: PSMD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231080282C>T, NC_000002.11:g.231944996C>T, NM_002807.4:c.1381C>T, NM_002807.3:c.1381C>T, XM_017004517.3:c.1381C>T, XM_017004517.2:c.1381C>T, XM_017004517.1:c.1381C>T, NM_001191037.2:c.1381C>T, NM_001191037.1:c.1381C>T, NR_034059.2:n.1370C>T, NR_034059.1:n.1373C>T

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