SNP Links for Protein (Select 578820065) - SNP

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Links from Protein

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Select item 14907379651.

rs1490737965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:113849174 (GRCh38)
10:115608933 (GRCh37)
Canonical SPDI:: NC_000010.11:113849173:A:C
Gene:: DCLRE1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113849174A>C, NC_000010.10:g.115608933A>C, NM_014881.5:c.1931T>G, NM_014881.4:c.1931T>G, XM_006718090.2:c.1931T>G, XM_006718090.1:c.1931T>G, XM_011540429.2:c.1931T>G, XM_011540429.1:c.1931T>G, NM_001271816.2:c.1931T>G, NM_001271816.1:c.1931T>G, NP_055696.3:p.Leu644Arg, XP_006718153.1:p.Leu644Arg, XP_011538731.1:p.Leu644Arg, NP_001258745.1:p.Leu644Arg

Select item 14894298762.

rs1489429876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:113852743 (GRCh38)
10:115612502 (GRCh37)
Canonical SPDI:: NC_000010.11:113852742:G:C
Gene:: DCLRE1A (Varview), NHLRC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113852743G>C, NC_000010.10:g.115612502G>C, NM_014881.5:c.440C>G, NM_014881.4:c.440C>G, XM_006718090.2:c.440C>G, XM_006718090.1:c.440C>G, XM_011540429.2:c.440C>G, XM_011540429.1:c.440C>G, NM_001271816.2:c.440C>G, NM_001271816.1:c.440C>G, NP_055696.3:p.Ser147Cys, XP_006718153.1:p.Ser147Cys, XP_011538731.1:p.Ser147Cys, NP_001258745.1:p.Ser147Cys

Select item 14894239203.

rs1489423920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113853029 (GRCh38)
10:115612788 (GRCh37)
Canonical SPDI:: NC_000010.11:113853028:T:C
Gene:: DCLRE1A (Varview), NHLRC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.113853029T>C, NC_000010.10:g.115612788T>C, NM_014881.5:c.154A>G, NM_014881.4:c.154A>G, XM_006718090.2:c.154A>G, XM_006718090.1:c.154A>G, XM_011540429.2:c.154A>G, XM_011540429.1:c.154A>G, NM_001271816.2:c.154A>G, NM_001271816.1:c.154A>G, NP_055696.3:p.Lys52Glu, XP_006718153.1:p.Lys52Glu, XP_011538731.1:p.Lys52Glu, NP_001258745.1:p.Lys52Glu

Select item 14892929744.

rs1489292974 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:113853004 (GRCh38)
10:115612763 (GRCh37)
Canonical SPDI:: NC_000010.11:113853003:A:
Gene:: DCLRE1A (Varview), NHLRC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.113853004del, NC_000010.10:g.115612763del, NM_014881.5:c.179del, NM_014881.4:c.179del, XM_006718090.2:c.179del, XM_006718090.1:c.179del, XM_011540429.2:c.179del, XM_011540429.1:c.179del, NM_001271816.2:c.179del, NM_001271816.1:c.179del, NP_055696.3:p.Val60fs, XP_006718153.1:p.Val60fs, XP_011538731.1:p.Val60fs, NP_001258745.1:p.Val60fs

Select item 14889769745.

rs1488976974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:113844240 (GRCh38)
10:115603999 (GRCh37)
Canonical SPDI:: NC_000010.11:113844239:G:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113844240G>T, NC_000010.10:g.115603999G>T, NM_014881.5:c.2383C>A, NM_014881.4:c.2383C>A, XM_006718090.2:c.2383C>A, XM_006718090.1:c.2383C>A, XM_011540429.2:c.2383C>A, XM_011540429.1:c.2383C>A, NM_001271816.2:c.2383C>A, NM_001271816.1:c.2383C>A, NP_055696.3:p.Pro795Thr, XP_006718153.1:p.Pro795Thr, XP_011538731.1:p.Pro795Thr, NP_001258745.1:p.Pro795Thr

Select item 14884171936.

rs1488417193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:113849989 (GRCh38)
10:115609748 (GRCh37)
Canonical SPDI:: NC_000010.11:113849988:A:G
Gene:: DCLRE1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.113849989A>G, NC_000010.10:g.115609748A>G, NM_014881.5:c.1116T>C, NM_014881.4:c.1116T>C, XM_006718090.2:c.1116T>C, XM_006718090.1:c.1116T>C, XM_011540429.2:c.1116T>C, XM_011540429.1:c.1116T>C, NM_001271816.2:c.1116T>C, NM_001271816.1:c.1116T>C

Select item 14869632877.

rs1486963287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113849538 (GRCh38)
10:115609297 (GRCh37)
Canonical SPDI:: NC_000010.11:113849537:T:C
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.113849538T>C, NC_000010.10:g.115609297T>C, NM_014881.5:c.1567A>G, NM_014881.4:c.1567A>G, XM_006718090.2:c.1567A>G, XM_006718090.1:c.1567A>G, XM_011540429.2:c.1567A>G, XM_011540429.1:c.1567A>G, NM_001271816.2:c.1567A>G, NM_001271816.1:c.1567A>G, NP_055696.3:p.Thr523Ala, XP_006718153.1:p.Thr523Ala, XP_011538731.1:p.Thr523Ala, NP_001258745.1:p.Thr523Ala

Select item 14866439598.

rs1486643959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:113835224 (GRCh38)
10:115594983 (GRCh37)
Canonical SPDI:: NC_000010.11:113835223:A:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.113835224A>T, NC_000010.10:g.115594983A>T, NM_014881.5:c.3051T>A, NM_014881.4:c.3051T>A, XM_006718090.2:c.3051T>A, XM_006718090.1:c.3051T>A, XM_011540429.2:c.3051T>A, XM_011540429.1:c.3051T>A, NM_001271816.2:c.3051T>A, NM_001271816.1:c.3051T>A, NP_055696.3:p.Asn1017Lys, XP_006718153.1:p.Asn1017Lys, XP_011538731.1:p.Asn1017Lys, NP_001258745.1:p.Asn1017Lys

Select item 14856444779.

rs1485644477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:113849160 (GRCh38)
10:115608919 (GRCh37)
Canonical SPDI:: NC_000010.11:113849159:A:G
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.113849160A>G, NC_000010.10:g.115608919A>G, NM_014881.5:c.1945T>C, NM_014881.4:c.1945T>C, XM_006718090.2:c.1945T>C, XM_006718090.1:c.1945T>C, XM_011540429.2:c.1945T>C, XM_011540429.1:c.1945T>C, NM_001271816.2:c.1945T>C, NM_001271816.1:c.1945T>C, NP_055696.3:p.Cys649Arg, XP_006718153.1:p.Cys649Arg, XP_011538731.1:p.Cys649Arg, NP_001258745.1:p.Cys649Arg

Select item 148429627210.

rs1484296272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113849402 (GRCh38)
10:115609161 (GRCh37)
Canonical SPDI:: NC_000010.11:113849401:T:C
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.113849402T>C, NC_000010.10:g.115609161T>C, NM_014881.5:c.1703A>G, NM_014881.4:c.1703A>G, XM_006718090.2:c.1703A>G, XM_006718090.1:c.1703A>G, XM_011540429.2:c.1703A>G, XM_011540429.1:c.1703A>G, NM_001271816.2:c.1703A>G, NM_001271816.1:c.1703A>G, NP_055696.3:p.Lys568Arg, XP_006718153.1:p.Lys568Arg, XP_011538731.1:p.Lys568Arg, NP_001258745.1:p.Lys568Arg

Select item 148423148311.

rs1484231483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:113849776 (GRCh38)
10:115609535 (GRCh37)
Canonical SPDI:: NC_000010.11:113849775:C:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.113849776C>T, NC_000010.10:g.115609535C>T, NM_014881.5:c.1329G>A, NM_014881.4:c.1329G>A, XM_006718090.2:c.1329G>A, XM_006718090.1:c.1329G>A, XM_011540429.2:c.1329G>A, XM_011540429.1:c.1329G>A, NM_001271816.2:c.1329G>A, NM_001271816.1:c.1329G>A

Select item 148349813512.

rs1483498135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:113842445 (GRCh38)
10:115602204 (GRCh37)
Canonical SPDI:: NC_000010.11:113842444:T:A,NC_000010.11:113842444:T:C
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.113842445T>A, NC_000010.11:g.113842445T>C, NC_000010.10:g.115602204T>A, NC_000010.10:g.115602204T>C, NM_014881.5:c.2563A>T, NM_014881.5:c.2563A>G, NM_014881.4:c.2563A>T, NM_014881.4:c.2563A>G, XM_006718090.2:c.2563A>T, XM_006718090.2:c.2563A>G, XM_006718090.1:c.2563A>T, XM_006718090.1:c.2563A>G, XM_011540429.2:c.2563A>T, XM_011540429.2:c.2563A>G, XM_011540429.1:c.2563A>T, XM_011540429.1:c.2563A>G, NM_001271816.2:c.2563A>T, NM_001271816.2:c.2563A>G, NM_001271816.1:c.2563A>T, NM_001271816.1:c.2563A>G, NP_055696.3:p.Ile855Phe, NP_055696.3:p.Ile855Val, XP_006718153.1:p.Ile855Phe, XP_006718153.1:p.Ile855Val, XP_011538731.1:p.Ile855Phe, XP_011538731.1:p.Ile855Val, NP_001258745.1:p.Ile855Phe, NP_001258745.1:p.Ile855Val

Select item 148322228613.

rs1483222286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:113835177 (GRCh38)
10:115594936 (GRCh37)
Canonical SPDI:: NC_000010.11:113835176:T:G
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.113835177T>G, NC_000010.10:g.115594936T>G, NM_014881.5:c.3098A>C, NM_014881.4:c.3098A>C, XM_006718090.2:c.3098A>C, XM_006718090.1:c.3098A>C, XM_011540429.2:c.3098A>C, XM_011540429.1:c.3098A>C, NM_001271816.2:c.3098A>C, NM_001271816.1:c.3098A>C, NP_055696.3:p.Glu1033Ala, XP_006718153.1:p.Glu1033Ala, XP_011538731.1:p.Glu1033Ala, NP_001258745.1:p.Glu1033Ala

Select item 148239621014.

rs1482396210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:113853178 (GRCh38)
10:115612937 (GRCh37)
Canonical SPDI:: NC_000010.11:113853177:A:G
Gene:: DCLRE1A (Varview), NHLRC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.113853178A>G, NC_000010.10:g.115612937A>G, NM_014881.5:c.5T>C, NM_014881.4:c.5T>C, XM_006718090.2:c.5T>C, XM_006718090.1:c.5T>C, XM_011540429.2:c.5T>C, XM_011540429.1:c.5T>C, NM_001271816.2:c.5T>C, NM_001271816.1:c.5T>C, NP_055696.3:p.Leu2Ser, XP_006718153.1:p.Leu2Ser, XP_011538731.1:p.Leu2Ser, NP_001258745.1:p.Leu2Ser

Select item 148200622515.

rs1482006225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:113849880 (GRCh38)
10:115609639 (GRCh37)
Canonical SPDI:: NC_000010.11:113849879:A:C
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.113849880A>C, NC_000010.10:g.115609639A>C, NM_014881.5:c.1225T>G, NM_014881.4:c.1225T>G, XM_006718090.2:c.1225T>G, XM_006718090.1:c.1225T>G, XM_011540429.2:c.1225T>G, XM_011540429.1:c.1225T>G, NM_001271816.2:c.1225T>G, NM_001271816.1:c.1225T>G, NP_055696.3:p.Leu409Val, XP_006718153.1:p.Leu409Val, XP_011538731.1:p.Leu409Val, NP_001258745.1:p.Leu409Val

Select item 148117284716.

rs1481172847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:113849778 (GRCh38)
10:115609537 (GRCh37)
Canonical SPDI:: NC_000010.11:113849777:G:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.113849778G>T, NC_000010.10:g.115609537G>T, NM_014881.5:c.1327C>A, NM_014881.4:c.1327C>A, XM_006718090.2:c.1327C>A, XM_006718090.1:c.1327C>A, XM_011540429.2:c.1327C>A, XM_011540429.1:c.1327C>A, NM_001271816.2:c.1327C>A, NM_001271816.1:c.1327C>A, NP_055696.3:p.Gln443Lys, XP_006718153.1:p.Gln443Lys, XP_011538731.1:p.Gln443Lys, NP_001258745.1:p.Gln443Lys

Select item 147947598917.

rs1479475989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:113850311 (GRCh38)
10:115610070 (GRCh37)
Canonical SPDI:: NC_000010.11:113850310:A:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113850311A>T, NC_000010.10:g.115610070A>T, NM_014881.5:c.794T>A, NM_014881.4:c.794T>A, XM_006718090.2:c.794T>A, XM_006718090.1:c.794T>A, XM_011540429.2:c.794T>A, XM_011540429.1:c.794T>A, NM_001271816.2:c.794T>A, NM_001271816.1:c.794T>A, NP_055696.3:p.Val265Asp, XP_006718153.1:p.Val265Asp, XP_011538731.1:p.Val265Asp, NP_001258745.1:p.Val265Asp

Select item 147910022918.

rs1479100229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:113852943 (GRCh38)
10:115612702 (GRCh37)
Canonical SPDI:: NC_000010.11:113852942:C:T
Gene:: DCLRE1A (Varview), NHLRC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113852943C>T, NC_000010.10:g.115612702C>T, NM_014881.5:c.240G>A, NM_014881.4:c.240G>A, XM_006718090.2:c.240G>A, XM_006718090.1:c.240G>A, XM_011540429.2:c.240G>A, XM_011540429.1:c.240G>A, NM_001271816.2:c.240G>A, NM_001271816.1:c.240G>A

Select item 147811503519.

rs1478115035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:113850575 (GRCh38)
10:115610334 (GRCh37)
Canonical SPDI:: NC_000010.11:113850574:A:G
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113850575A>G, NC_000010.10:g.115610334A>G, NM_014881.5:c.530T>C, NM_014881.4:c.530T>C, XM_006718090.2:c.530T>C, XM_006718090.1:c.530T>C, XM_011540429.2:c.530T>C, XM_011540429.1:c.530T>C, NM_001271816.2:c.530T>C, NM_001271816.1:c.530T>C, NP_055696.3:p.Leu177Pro, XP_006718153.1:p.Leu177Pro, XP_011538731.1:p.Leu177Pro, NP_001258745.1:p.Leu177Pro

Select item 147585755820.

rs1475857558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:113850508 (GRCh38)
10:115610267 (GRCh37)
Canonical SPDI:: NC_000010.11:113850507:A:T
Gene:: DCLRE1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.113850508A>T, NC_000010.10:g.115610267A>T, NM_014881.5:c.597T>A, NM_014881.4:c.597T>A, XM_006718090.2:c.597T>A, XM_006718090.1:c.597T>A, XM_011540429.2:c.597T>A, XM_011540429.1:c.597T>A, NM_001271816.2:c.597T>A, NM_001271816.1:c.597T>A, NP_055696.3:p.Ser199Arg, XP_006718153.1:p.Ser199Arg, XP_011538731.1:p.Ser199Arg, NP_001258745.1:p.Ser199Arg

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