SNP Links for Protein (Select 4506587) - SNP

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Links from Protein

Items: 1 to 20 of 148

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Select item 14871534801.

rs1487153480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:7637950 (GRCh38)
7:7677581 (GRCh37)
Canonical SPDI:: NC_000007.14:7637949:A:C
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.7637950A>C, NC_000007.13:g.7677581A>C, NM_002947.5:c.197T>G, NM_002947.4:c.197T>G, NM_002947.3:c.197T>G, NP_002938.1:p.Ile66Ser

Select item 14870417192.

rs1487041719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:7639106 (GRCh38)
7:7678737 (GRCh37)
Canonical SPDI:: NC_000007.14:7639105:T:C
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7639106T>C, NC_000007.13:g.7678737T>C, NM_002947.5:c.138A>G, NM_002947.4:c.138A>G, NM_002947.3:c.138A>G

Select item 14811893693.

rs1481189369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:7639071 (GRCh38)
7:7678702 (GRCh37)
Canonical SPDI:: NC_000007.14:7639070:G:T
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.7639071G>T, NC_000007.13:g.7678702G>T, NM_002947.5:c.173C>A, NM_002947.4:c.173C>A, NM_002947.3:c.173C>A, NP_002938.1:p.Pro58His

Select item 14786713014.

rs1478671301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:7640405 (GRCh38)
7:7680036 (GRCh37)
Canonical SPDI:: NC_000007.14:7640404:A:G
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.7640405A>G, NC_000007.13:g.7680036A>G, NM_002947.5:c.14T>C, NM_002947.4:c.14T>C, NM_002947.3:c.14T>C, NP_002938.1:p.Met5Thr

Select item 14750777045.

rs1475077704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:7639109 (GRCh38)
7:7678740 (GRCh37)
Canonical SPDI:: NC_000007.14:7639108:A:G,NC_000007.14:7639108:A:T
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/2 (ALFA)
HGVS:: NC_000007.14:g.7639109A>G, NC_000007.14:g.7639109A>T, NC_000007.13:g.7678740A>G, NC_000007.13:g.7678740A>T, NM_002947.5:c.135T>C, NM_002947.5:c.135T>A, NM_002947.4:c.135T>C, NM_002947.4:c.135T>A, NM_002947.3:c.135T>C, NM_002947.3:c.135T>A, NP_002938.1:p.Asp45Glu

Select item 14672989956.

rs1467298995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:7637959 (GRCh38)
7:7677590 (GRCh37)
Canonical SPDI:: NC_000007.14:7637958:A:T
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7637959A>T, NC_000007.13:g.7677590A>T, NM_002947.5:c.188T>A, NM_002947.4:c.188T>A, NM_002947.3:c.188T>A, NP_002938.1:p.Ile63Asn

Select item 14562877317.

rs1456287731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:7640413 (GRCh38)
7:7680044 (GRCh37)
Canonical SPDI:: NC_000007.14:7640412:C:T
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7640413C>T, NC_000007.13:g.7680044C>T, NM_002947.5:c.6G>A, NM_002947.4:c.6G>A, NM_002947.3:c.6G>A

Select item 14488368608.

rs1448836860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:7640325 (GRCh38)
7:7679956 (GRCh37)
Canonical SPDI:: NC_000007.14:7640324:C:G,NC_000007.14:7640324:C:T
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.7640325C>G, NC_000007.14:g.7640325C>T, NC_000007.13:g.7679956C>G, NC_000007.13:g.7679956C>T, NM_002947.5:c.94G>C, NM_002947.5:c.94G>A, NM_002947.4:c.94G>C, NM_002947.4:c.94G>A, NM_002947.3:c.94G>C, NM_002947.3:c.94G>A, NP_002938.1:p.Glu32Gln, NP_002938.1:p.Glu32Lys

Select item 14469815819.

rs1446981581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:7639142 (GRCh38)
7:7678773 (GRCh37)
Canonical SPDI:: NC_000007.14:7639141:A:C
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.7639142A>C, NC_000007.13:g.7678773A>C, NM_002947.5:c.102T>G, NM_002947.4:c.102T>G, NM_002947.3:c.102T>G, NP_002938.1:p.Ile34Met

Select item 144643632710.

rs1446436327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:7637071 (GRCh38)
7:7676702 (GRCh37)
Canonical SPDI:: NC_000007.14:7637070:A:G
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7637071A>G, NC_000007.13:g.7676702A>G, NM_002947.5:c.295T>C, NM_002947.4:c.295T>C, NM_002947.3:c.295T>C, NP_002938.1:p.Tyr99His

Select item 143867882311.

rs1438678823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:7637038 (GRCh38)
7:7676669 (GRCh37)
Canonical SPDI:: NC_000007.14:7637037:G:C
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.7637038G>C, NC_000007.13:g.7676669G>C, NM_002947.5:c.328C>G, NM_002947.4:c.328C>G, NM_002947.3:c.328C>G, NP_002938.1:p.Pro110Ala

Select item 142799613412.

rs1427996134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:7637964 (GRCh38)
7:7677595 (GRCh37)
Canonical SPDI:: NC_000007.14:7637963:T:C
Gene:: RPA3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000007.14:g.7637964T>C, NC_000007.13:g.7677595T>C, NM_002947.5:c.183A>G, NM_002947.4:c.183A>G, NM_002947.3:c.183A>G

Select item 142603615213.

rs1426036152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:7637077 (GRCh38)
7:7676708 (GRCh37)
Canonical SPDI:: NC_000007.14:7637076:C:T
Gene:: RPA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7637077C>T, NC_000007.13:g.7676708C>T, NM_002947.5:c.289G>A, NM_002947.4:c.289G>A, NM_002947.3:c.289G>A, NP_002938.1:p.Gly97Arg

Select item 141936683914.

rs1419366839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:7637082 (GRCh38)
7:7676713 (GRCh37)
Canonical SPDI:: NC_000007.14:7637081:T:C
Gene:: RPA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.7637082T>C, NC_000007.13:g.7676713T>C, NM_002947.5:c.284A>G, NM_002947.4:c.284A>G, NM_002947.3:c.284A>G, NP_002938.1:p.Asp95Gly

Select item 140874784015.

rs1408747840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:7637070 (GRCh38)
7:7676701 (GRCh37)
Canonical SPDI:: NC_000007.14:7637069:T:C
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.7637070T>C, NC_000007.13:g.7676701T>C, NM_002947.5:c.296A>G, NM_002947.4:c.296A>G, NM_002947.3:c.296A>G, NP_002938.1:p.Tyr99Cys

Select item 139896654816.

rs1398966548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:7640385 (GRCh38)
7:7680016 (GRCh37)
Canonical SPDI:: NC_000007.14:7640384:T:G
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7640385T>G, NC_000007.13:g.7680016T>G, NM_002947.5:c.34A>C, NM_002947.4:c.34A>C, NM_002947.3:c.34A>C, NP_002938.1:p.Ile12Leu

Select item 139814582317.

rs1398145823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:7637881 (GRCh38)
7:7677512 (GRCh37)
Canonical SPDI:: NC_000007.14:7637880:T:C
Gene:: RPA3 (Varview)
Functional Consequence:: 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=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.7637881T>C, NC_000007.13:g.7677512T>C, NM_002947.5:c.266A>G, NM_002947.4:c.266A>G, NM_002947.3:c.266A>G, NP_002938.1:p.Glu89Gly

Select item 139361777518.

rs1393617775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:7637037 (GRCh38)
7:7676668 (GRCh37)
Canonical SPDI:: NC_000007.14:7637036:G:C
Gene:: RPA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.7637037G>C, NC_000007.13:g.7676668G>C, NM_002947.5:c.329C>G, NM_002947.4:c.329C>G, NM_002947.3:c.329C>G, NP_002938.1:p.Pro110Arg

Select item 138899644619.

rs1388996446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:7640327 (GRCh38)
7:7679958 (GRCh37)
Canonical SPDI:: NC_000007.14:7640326:A:G
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.7640327A>G, NC_000007.13:g.7679958A>G, NM_002947.5:c.92T>C, NM_002947.4:c.92T>C, NM_002947.3:c.92T>C, NP_002938.1:p.Leu31Pro

Select item 138328306820.

rs1383283068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:7640328 (GRCh38)
7:7679959 (GRCh37)
Canonical SPDI:: NC_000007.14:7640327:G:C
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.7640328G>C, NC_000007.13:g.7679959G>C, NM_002947.5:c.91C>G, NM_002947.4:c.91C>G, NM_002947.3:c.91C>G, NP_002938.1:p.Leu31Val