SNP Links for Protein (Select 384367993) - SNP

Links from Protein

Items: 1 to 20 of 214

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Select item 14902500541.

rs1490250054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83049916 (GRCh38)
4:83971069 (GRCh37)
Canonical SPDI:: NC_000004.12:83049915:T:C
Gene:: COPS4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83049916T>C, NC_000004.11:g.83971069T>C, NM_016129.3:c.342T>C, NM_016129.2:c.342T>C, NM_001330727.2:c.342T>C, NM_001330727.1:c.342T>C, NM_001258006.2:c.342T>C, NM_001258006.1:c.342T>C

Select item 14897967072.

rs1489796707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83066443 (GRCh38)
4:83987596 (GRCh37)
Canonical SPDI:: NC_000004.12:83066442:A:T
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.83066443A>T, NC_000004.11:g.83987596A>T, NM_016129.3:c.892A>T, NM_016129.2:c.892A>T, NM_001330727.2:c.892A>T, NM_001330727.1:c.892A>T, NM_001258006.2:c.892A>T, NM_001258006.1:c.892A>T, NP_057213.2:p.Ser298Cys, NP_001317656.1:p.Ser298Cys, NP_001244935.1:p.Ser298Cys

Select item 14897951233.

rs1489795123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83063163 (GRCh38)
4:83984316 (GRCh37)
Canonical SPDI:: NC_000004.12:83063162:A:T
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.83063163A>T, NC_000004.11:g.83984316A>T, NM_016129.3:c.803A>T, NM_016129.2:c.803A>T, NM_001330727.2:c.803A>T, NM_001330727.1:c.803A>T, NM_001258006.2:c.803A>T, NM_001258006.1:c.803A>T, NP_057213.2:p.Tyr268Phe, NP_001317656.1:p.Tyr268Phe, NP_001244935.1:p.Tyr268Phe

Select item 14857750974.

rs1485775097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:83063204 (GRCh38)
4:83984357 (GRCh37)
Canonical SPDI:: NC_000004.12:83063203:G:T
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83063204G>T, NC_000004.11:g.83984357G>T, NM_016129.3:c.844G>T, NM_016129.2:c.844G>T, NM_001330727.2:c.844G>T, NM_001330727.1:c.844G>T, NM_001258006.2:c.844G>T, NM_001258006.1:c.844G>T, NP_057213.2:p.Ala282Ser, NP_001317656.1:p.Ala282Ser, NP_001244935.1:p.Ala282Ser

Select item 14831937605.

rs1483193760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83057392 (GRCh38)
4:83978545 (GRCh37)
Canonical SPDI:: NC_000004.12:83057391:G:A
Gene:: COPS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.83057392G>A, NC_000004.11:g.83978545G>A, NM_016129.3:c.699G>A, NM_016129.2:c.699G>A, NM_001330727.2:c.699G>A, NM_001330727.1:c.699G>A, NM_001258006.2:c.699G>A, NM_001258006.1:c.699G>A

Select item 14791750556.

rs1479175055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83057271 (GRCh38)
4:83978424 (GRCh37)
Canonical SPDI:: NC_000004.12:83057270:G:A
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83057271G>A, NC_000004.11:g.83978424G>A, NM_016129.3:c.578G>A, NM_016129.2:c.578G>A, NM_001330727.2:c.578G>A, NM_001330727.1:c.578G>A, NM_001258006.2:c.578G>A, NM_001258006.1:c.578G>A, NP_057213.2:p.Arg193His, NP_001317656.1:p.Arg193His, NP_001244935.1:p.Arg193His

Select item 14787107657.

rs1478710765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83049946 (GRCh38)
4:83971099 (GRCh37)
Canonical SPDI:: NC_000004.12:83049945:C:T
Gene:: COPS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83049946C>T, NC_000004.11:g.83971099C>T, NM_016129.3:c.372C>T, NM_016129.2:c.372C>T, NM_001330727.2:c.372C>T, NM_001330727.1:c.372C>T, NM_001258006.2:c.372C>T, NM_001258006.1:c.372C>T

Select item 14777284098.

rs1477728409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83045671 (GRCh38)
4:83966824 (GRCh37)
Canonical SPDI:: NC_000004.12:83045670:A:G
Gene:: COPS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83045671A>G, NC_000004.11:g.83966824A>G, NM_016129.3:c.120A>G, NM_016129.2:c.120A>G, NM_001330727.2:c.120A>G, NM_001330727.1:c.120A>G, NM_001258006.2:c.120A>G, NM_001258006.1:c.120A>G

Select item 14763623869.

rs1476362386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83066478 (GRCh38)
4:83987631 (GRCh37)
Canonical SPDI:: NC_000004.12:83066477:G:A
Gene:: COPS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83066478G>A, NC_000004.11:g.83987631G>A, NM_016129.3:c.927G>A, NM_016129.2:c.927G>A, NM_001330727.2:c.927G>A, NM_001330727.1:c.927G>A, NM_001258006.2:c.927G>A, NM_001258006.1:c.927G>A

Select item 146831037210.

rs1468310372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:83057069 (GRCh38)
4:83978222 (GRCh37)
Canonical SPDI:: NC_000004.12:83057068:T:A
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83057069T>A, NC_000004.11:g.83978222T>A, NM_016129.3:c.554T>A, NM_016129.2:c.554T>A, NM_001330727.2:c.554T>A, NM_001330727.1:c.554T>A, NM_001258006.2:c.554T>A, NM_001258006.1:c.554T>A, NP_057213.2:p.Ile185Lys, NP_001317656.1:p.Ile185Lys, NP_001244935.1:p.Ile185Lys

Select item 146074046011.

rs1460740460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83066506 (GRCh38)
4:83987659 (GRCh37)
Canonical SPDI:: NC_000004.12:83066505:A:G
Gene:: COPS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.83066506A>G, NC_000004.11:g.83987659A>G, NM_016129.3:c.955A>G, NM_016129.2:c.955A>G, NM_001330727.2:c.955A>G, NM_001330727.1:c.955A>G, NM_001258006.2:c.955A>G, NM_001258006.1:c.955A>G, NP_057213.2:p.Ile319Val, NP_001317656.1:p.Ile319Val, NP_001244935.1:p.Ile319Val

Select item 145976073612.

rs1459760736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83056983 (GRCh38)
4:83978136 (GRCh37)
Canonical SPDI:: NC_000004.12:83056982:G:A
Gene:: COPS4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.83056983G>A, NC_000004.11:g.83978136G>A, NM_016129.3:c.468G>A, NM_016129.2:c.468G>A, NM_001330727.2:c.468G>A, NM_001330727.1:c.468G>A, NM_001258006.2:c.468G>A, NM_001258006.1:c.468G>A

Select item 145948405113.

rs1459484051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83049299 (GRCh38)
4:83970452 (GRCh37)
Canonical SPDI:: NC_000004.12:83049298:C:T
Gene:: COPS4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83049299C>T, NC_000004.11:g.83970452C>T, NM_016129.3:c.288C>T, NM_016129.2:c.288C>T, NM_001330727.2:c.288C>T, NM_001330727.1:c.288C>T, NM_001258006.2:c.288C>T, NM_001258006.1:c.288C>T

Select item 144840790914.

rs1448407909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83066461 (GRCh38)
4:83987614 (GRCh37)
Canonical SPDI:: NC_000004.12:83066460:G:A
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.83066461G>A, NC_000004.11:g.83987614G>A, NM_016129.3:c.910G>A, NM_016129.2:c.910G>A, NM_001330727.2:c.910G>A, NM_001330727.1:c.910G>A, NM_001258006.2:c.910G>A, NM_001258006.1:c.910G>A, NP_057213.2:p.Val304Ile, NP_001317656.1:p.Val304Ile, NP_001244935.1:p.Val304Ile

Select item 144828005715.

rs1448280057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83049246 (GRCh38)
4:83970399 (GRCh37)
Canonical SPDI:: NC_000004.12:83049245:A:G
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.83049246A>G, NC_000004.11:g.83970399A>G, NM_016129.3:c.235A>G, NM_016129.2:c.235A>G, NM_001330727.2:c.235A>G, NM_001330727.1:c.235A>G, NM_001258006.2:c.235A>G, NM_001258006.1:c.235A>G, NP_057213.2:p.Ser79Gly, NP_001317656.1:p.Ser79Gly, NP_001244935.1:p.Ser79Gly

Select item 144539075416.

rs1445390754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:83063129 (GRCh38)
4:83984282 (GRCh37)
Canonical SPDI:: NC_000004.12:83063128:C:A
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.83063129C>A, NC_000004.11:g.83984282C>A, NM_016129.3:c.769C>A, NM_016129.2:c.769C>A, NM_001330727.2:c.769C>A, NM_001330727.1:c.769C>A, NM_001258006.2:c.769C>A, NM_001258006.1:c.769C>A, NP_057213.2:p.Gln257Lys, NP_001317656.1:p.Gln257Lys, NP_001244935.1:p.Gln257Lys

Select item 144346746017.

rs1443467460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:83057051 (GRCh38)
4:83978204 (GRCh37)
Canonical SPDI:: NC_000004.12:83057050:C:G
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83057051C>G, NC_000004.11:g.83978204C>G, NM_016129.3:c.536C>G, NM_016129.2:c.536C>G, NM_001330727.2:c.536C>G, NM_001330727.1:c.536C>G, NM_001258006.2:c.536C>G, NM_001258006.1:c.536C>G, NP_057213.2:p.Thr179Ser, NP_001317656.1:p.Thr179Ser, NP_001244935.1:p.Thr179Ser

Select item 144283612818.

rs1442836128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83057032 (GRCh38)
4:83978185 (GRCh37)
Canonical SPDI:: NC_000004.12:83057031:T:C
Gene:: COPS4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83057032T>C, NC_000004.11:g.83978185T>C, NM_016129.3:c.517T>C, NM_016129.2:c.517T>C, NM_001330727.2:c.517T>C, NM_001330727.1:c.517T>C, NM_001258006.2:c.517T>C, NM_001258006.1:c.517T>C

Select item 144179694419.

rs1441796944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:83063235 (GRCh38)
4:83984388 (GRCh37)
Canonical SPDI:: NC_000004.12:83063234:C:G,NC_000004.12:83063234:C:T
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.83063235C>G, NC_000004.12:g.83063235C>T, NC_000004.11:g.83984388C>G, NC_000004.11:g.83984388C>T, NM_016129.3:c.875C>G, NM_016129.3:c.875C>T, NM_016129.2:c.875C>G, NM_016129.2:c.875C>T, NM_001330727.2:c.875C>G, NM_001330727.2:c.875C>T, NM_001330727.1:c.875C>G, NM_001330727.1:c.875C>T, NM_001258006.2:c.875C>G, NM_001258006.2:c.875C>T, NM_001258006.1:c.875C>G, NM_001258006.1:c.875C>T, NP_057213.2:p.Thr292Ser, NP_057213.2:p.Thr292Ile, NP_001317656.1:p.Thr292Ser, NP_001317656.1:p.Thr292Ile, NP_001244935.1:p.Thr292Ser, NP_001244935.1:p.Thr292Ile

Select item 143727552520.

rs1437275525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83035279 (GRCh38)
4:83956432 (GRCh37)
Canonical SPDI:: NC_000004.12:83035278:C:T
Gene:: COPS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83035279C>T, NC_000004.11:g.83956432C>T, NG_061531.1:g.484C>T, NM_016129.3:c.55C>T, NM_016129.2:c.55C>T, NM_001330727.2:c.55C>T, NM_001330727.1:c.55C>T, NM_001258006.2:c.55C>T, NM_001258006.1:c.55C>T, NP_057213.2:p.His19Tyr, NP_001317656.1:p.His19Tyr, NP_001244935.1:p.His19Tyr

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