SNP Links for Protein (Select 1034588746) - SNP

Links from Protein

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Select item 14913443681.

rs1491344368 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:24179919 (GRCh38)
14:24649125 (GRCh37)
Canonical SPDI:: NC_000014.9:24179918:AT:
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,frameshift_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000087/2 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000025/3 (ExAC)
HGVS:: NC_000014.9:g.24179919_24179920del, NW_018654722.1:g.480897_480898del, NC_000014.8:g.24649125_24649126del, XM_011537421.3:c.1571_1572del, XM_011537421.2:c.1571_1572del, XM_011537421.1:c.1571_1572del, XM_017021841.3:c.770_771del, XM_017021841.2:c.770_771del, XM_017021841.1:c.770_771del, XM_024449794.2:c.1571_1572del, XM_024449794.1:c.1571_1572del, XP_011535723.1:p.His524fs, XP_016877330.1:p.His257fs, XP_024305562.1:p.His524fs

Select item 14891520192.

rs1489152019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24177911 (GRCh38)
14:24647117 (GRCh37)
Canonical SPDI:: NC_000014.9:24177910:A:G
Gene:: REC8 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24177911A>G, NW_018654722.1:g.478889A>G, NC_000014.8:g.24647117A>G, XM_017021841.3:c.34A>G, XM_017021841.2:c.34A>G, XM_017021841.1:c.34A>G, XM_047432022.1:c.*66A>G, XM_047432023.1:c.*66A>G, XM_047432024.1:c.34A>G, XP_016877330.1:p.Thr12Ala, XP_047287980.1:p.Thr12Ala

Select item 14830847523.

rs1483084752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24179992 (GRCh38)
14:24649198 (GRCh37)
Canonical SPDI:: NC_000014.9:24179991:T:C
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24179992T>C, NW_018654722.1:g.480970T>C, NC_000014.8:g.24649198T>C, XM_011537421.3:c.1644T>C, XM_011537421.2:c.1644T>C, XM_011537421.1:c.1644T>C, XM_017021841.3:c.843T>C, XM_017021841.2:c.843T>C, XM_017021841.1:c.843T>C, XM_024449794.2:c.1644T>C, XM_024449794.1:c.1644T>C

Select item 14821019824.

rs1482101982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24179674 (GRCh38)
14:24648880 (GRCh37)
Canonical SPDI:: NC_000014.9:24179673:C:A
Gene:: REC8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24179674C>A, NW_018654722.1:g.480652C>A, NC_000014.8:g.24648880C>A, XM_011537421.3:c.1399C>A, XM_011537421.2:c.1399C>A, XM_011537421.1:c.1399C>A, NM_005132.3:c.1399C>A, NM_005132.2:c.1399C>A, XM_017021841.3:c.598C>A, XM_017021841.2:c.598C>A, XM_017021841.1:c.598C>A, XM_024449794.2:c.1399C>A, XM_024449794.1:c.1399C>A, NM_001048205.2:c.1399C>A, NM_001048205.1:c.1399C>A, XR_007064052.1:n.1722C>A, XM_047432024.1:c.598C>A, XP_011535723.1:p.Pro467Thr, NP_005123.2:p.Pro467Thr, XP_016877330.1:p.Pro200Thr, XP_024305562.1:p.Pro467Thr, NP_001041670.1:p.Pro467Thr, XP_047287980.1:p.Pro200Thr

Select item 14776770875.

rs1477677087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24178826 (GRCh38)
14:24648032 (GRCh37)
Canonical SPDI:: NC_000014.9:24178825:G:A
Gene:: REC8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000014.9:g.24178826G>A, NW_018654722.1:g.479804G>A, NC_000014.8:g.24648032G>A, XM_011537421.3:c.1113G>A, XM_011537421.2:c.1113G>A, XM_011537421.1:c.1113G>A, NM_005132.3:c.1113G>A, NM_005132.2:c.1113G>A, XM_017021841.3:c.312G>A, XM_017021841.2:c.312G>A, XM_017021841.1:c.312G>A, XM_024449794.2:c.1113G>A, XM_024449794.1:c.1113G>A, NM_001048205.2:c.1113G>A, NM_001048205.1:c.1113G>A, XR_007064052.1:n.1485G>A, XM_047432024.1:c.312G>A

Select item 14766269086.

rs1476626908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24177929 (GRCh38)
14:24647135 (GRCh37)
Canonical SPDI:: NC_000014.9:24177928:C:T
Gene:: REC8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_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_000014.9:g.24177929C>T, NW_018654722.1:g.478907C>T, NC_000014.8:g.24647135C>T, XM_017021841.3:c.52C>T, XM_017021841.2:c.52C>T, XM_017021841.1:c.52C>T, XM_047432022.1:c.*84C>T, XM_047432023.1:c.*84C>T, XM_047432024.1:c.52C>T, XP_016877330.1:p.Pro18Ser, XP_047287980.1:p.Pro18Ser

Select item 14742901397.

rs1474290139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24178916 (GRCh38)
14:24648122 (GRCh37)
Canonical SPDI:: NC_000014.9:24178915:G:A
Gene:: REC8 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24178916G>A, NW_018654722.1:g.479894G>A, NC_000014.8:g.24648122G>A, XM_011537421.3:c.1203G>A, XM_011537421.2:c.1203G>A, XM_011537421.1:c.1203G>A, NM_005132.3:c.1203G>A, NM_005132.2:c.1203G>A, XM_017021841.3:c.402G>A, XM_017021841.2:c.402G>A, XM_017021841.1:c.402G>A, XM_024449794.2:c.1203G>A, XM_024449794.1:c.1203G>A, NM_001048205.2:c.1203G>A, NM_001048205.1:c.1203G>A, XR_007064052.1:n.1575G>A, XM_047432024.1:c.402G>A

Select item 14725148268.

rs1472514826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24179122 (GRCh38)
14:24648328 (GRCh37)
Canonical SPDI:: NC_000014.9:24179121:T:C
Gene:: REC8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24179122T>C, NW_018654722.1:g.480100T>C, NC_000014.8:g.24648328T>C, XM_011537421.3:c.1241T>C, XM_011537421.2:c.1241T>C, XM_011537421.1:c.1241T>C, NM_005132.3:c.1241T>C, NM_005132.2:c.1241T>C, XM_017021841.3:c.440T>C, XM_017021841.2:c.440T>C, XM_017021841.1:c.440T>C, XM_024449794.2:c.1241T>C, XM_024449794.1:c.1241T>C, NM_001048205.2:c.1241T>C, NM_001048205.1:c.1241T>C, XM_047432024.1:c.440T>C, XP_011535723.1:p.Met414Thr, NP_005123.2:p.Met414Thr, XP_016877330.1:p.Met147Thr, XP_024305562.1:p.Met414Thr, NP_001041670.1:p.Met414Thr, XP_047287980.1:p.Met147Thr

Select item 14702917209.

rs1470291720 has merged into rs141999393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:24179929 (GRCh38)
14:24649135 (GRCh37)
Canonical SPDI:: NC_000014.9:24179919:TGTGTGTGTGTGT:TGTGTGTGT,NC_000014.9:24179919:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000014.9:24179919:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000014.9:24179919:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:24179919:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,frameshift_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TG=0.00011/2 (TOMMO)
HGVS:: NC_000014.9:g.24179921GT[4], NC_000014.9:g.24179921GT[5], NC_000014.9:g.24179921GT[7], NC_000014.9:g.24179921GT[8], NC_000014.9:g.24179921GT[10], NW_018654722.1:g.480899GT[4], NW_018654722.1:g.480899GT[5], NW_018654722.1:g.480899GT[7], NW_018654722.1:g.480899GT[8], NW_018654722.1:g.480899GT[10], NC_000014.8:g.24649127GT[4], NC_000014.8:g.24649127GT[5], NC_000014.8:g.24649127GT[7], NC_000014.8:g.24649127GT[8], NC_000014.8:g.24649127GT[10], XM_011537421.3:c.1581_1584del, XM_011537421.3:c.1583_1584del, XM_011537421.3:c.1583_1584dup, XM_011537421.3:c.1581_1584dup, XM_011537421.3:c.1577_1584dup, XM_011537421.2:c.1581_1584del, XM_011537421.2:c.1583_1584del, XM_011537421.2:c.1583_1584dup, XM_011537421.2:c.1581_1584dup, XM_011537421.2:c.1577_1584dup, XM_011537421.1:c.1581_1584del, XM_011537421.1:c.1583_1584del, XM_011537421.1:c.1583_1584dup, XM_011537421.1:c.1581_1584dup, XM_011537421.1:c.1577_1584dup, XM_017021841.3:c.780_783del, XM_017021841.3:c.782_783del, XM_017021841.3:c.782_783dup, XM_017021841.3:c.780_783dup, XM_017021841.3:c.776_783dup, XM_017021841.2:c.780_783del, XM_017021841.2:c.782_783del, XM_017021841.2:c.782_783dup, XM_017021841.2:c.780_783dup, XM_017021841.2:c.776_783dup, XM_017021841.1:c.780_783del, XM_017021841.1:c.782_783del, XM_017021841.1:c.782_783dup, XM_017021841.1:c.780_783dup, XM_017021841.1:c.776_783dup, XM_024449794.2:c.1581_1584del, XM_024449794.2:c.1583_1584del, XM_024449794.2:c.1583_1584dup, XM_024449794.2:c.1581_1584dup, XM_024449794.2:c.1577_1584dup, XM_024449794.1:c.1581_1584del, XM_024449794.1:c.1583_1584del, XM_024449794.1:c.1583_1584dup, XM_024449794.1:c.1581_1584dup, XM_024449794.1:c.1577_1584dup, XP_011535723.1:p.Met529fs, XP_011535723.1:p.Cys528fs, XP_011535723.1:p.Met529fs, XP_011535723.1:p.Met529fs, XP_011535723.1:p.Met529fs, XP_016877330.1:p.Met262fs, XP_016877330.1:p.Cys261fs, XP_016877330.1:p.Met262fs, XP_016877330.1:p.Met262fs, XP_016877330.1:p.Met262fs, XP_024305562.1:p.Met529fs, XP_024305562.1:p.Cys528fs, XP_024305562.1:p.Met529fs, XP_024305562.1:p.Met529fs, XP_024305562.1:p.Met529fs

Select item 147009548510.

rs1470095485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24179635 (GRCh38)
14:24648841 (GRCh37)
Canonical SPDI:: NC_000014.9:24179634:C:G
Gene:: REC8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24179635C>G, NW_018654722.1:g.480613C>G, NC_000014.8:g.24648841C>G, XM_011537421.3:c.1360C>G, XM_011537421.2:c.1360C>G, XM_011537421.1:c.1360C>G, NM_005132.3:c.1360C>G, NM_005132.2:c.1360C>G, XM_017021841.3:c.559C>G, XM_017021841.2:c.559C>G, XM_017021841.1:c.559C>G, XM_024449794.2:c.1360C>G, XM_024449794.1:c.1360C>G, NM_001048205.2:c.1360C>G, NM_001048205.1:c.1360C>G, XR_007064052.1:n.1683C>G, XM_047432024.1:c.559C>G, XP_011535723.1:p.Pro454Ala, NP_005123.2:p.Pro454Ala, XP_016877330.1:p.Pro187Ala, XP_024305562.1:p.Pro454Ala, NP_001041670.1:p.Pro454Ala, XP_047287980.1:p.Pro187Ala

Select item 146651290711.

rs1466512907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24180244 (GRCh38)
14:24649450 (GRCh37)
Canonical SPDI:: NC_000014.9:24180243:C:T
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24180244C>T, NW_018654722.1:g.481222C>T, NC_000014.8:g.24649450C>T, NM_024658.4:c.*198G>A, NM_024658.3:c.*198G>A, XM_011537421.3:c.1896C>T, XM_011537421.2:c.1896C>T, XM_011537421.1:c.1896C>T, NM_005132.3:c.*149C>T, NM_005132.2:c.*149C>T, XM_017021841.3:c.1095C>T, XM_017021841.2:c.1095C>T, XM_017021841.1:c.1095C>T, NR_051979.2:n.3493G>A, NR_051979.1:n.3595G>A, NM_001048205.1:c.*149C>T, NM_001048205.2:c.*149C>T, XM_024449794.2:c.1896C>T, XM_024449794.1:c.1896C>T, XM_047432024.1:c.*149C>T

Select item 146247565412.

rs1462475654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24179097 (GRCh38)
14:24648303 (GRCh37)
Canonical SPDI:: NC_000014.9:24179096:G:A
Gene:: REC8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00001/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.24179097G>A, NW_018654722.1:g.480075G>A, NC_000014.8:g.24648303G>A, XM_011537421.3:c.1216G>A, XM_011537421.2:c.1216G>A, XM_011537421.1:c.1216G>A, NM_005132.3:c.1216G>A, NM_005132.2:c.1216G>A, XM_017021841.3:c.415G>A, XM_017021841.2:c.415G>A, XM_017021841.1:c.415G>A, XM_024449794.2:c.1216G>A, XM_024449794.1:c.1216G>A, NM_001048205.2:c.1216G>A, NM_001048205.1:c.1216G>A, XM_047432024.1:c.415G>A, XP_011535723.1:p.Ala406Thr, NP_005123.2:p.Ala406Thr, XP_016877330.1:p.Ala139Thr, XP_024305562.1:p.Ala406Thr, NP_001041670.1:p.Ala406Thr, XP_047287980.1:p.Ala139Thr

Select item 146218706113.

rs1462187061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24178635 (GRCh38)
14:24647841 (GRCh37)
Canonical SPDI:: NC_000014.9:24178634:C:G
Gene:: REC8 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24178635C>G, NW_018654722.1:g.479613C>G, NC_000014.8:g.24647841C>G, XM_011537421.3:c.1026C>G, XM_011537421.2:c.1026C>G, XM_011537421.1:c.1026C>G, NM_005132.3:c.1026C>G, NM_005132.2:c.1026C>G, XM_017021841.3:c.225C>G, XM_017021841.2:c.225C>G, XM_017021841.1:c.225C>G, XM_024449794.2:c.1026C>G, XM_024449794.1:c.1026C>G, NM_001048205.2:c.1026C>G, NM_001048205.1:c.1026C>G, XR_007064052.1:n.1398C>G, XM_047432024.1:c.225C>G, XP_011535723.1:p.Ile342Met, NP_005123.2:p.Ile342Met, XP_016877330.1:p.Ile75Met, XP_024305562.1:p.Ile342Met, NP_001041670.1:p.Ile342Met, XP_047287980.1:p.Ile75Met

Select item 145863877814.

rs1458638778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24179113 (GRCh38)
14:24648319 (GRCh37)
Canonical SPDI:: NC_000014.9:24179112:T:C
Gene:: REC8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24179113T>C, NW_018654722.1:g.480091T>C, NC_000014.8:g.24648319T>C, XM_011537421.3:c.1232T>C, XM_011537421.2:c.1232T>C, XM_011537421.1:c.1232T>C, NM_005132.3:c.1232T>C, NM_005132.2:c.1232T>C, XM_017021841.3:c.431T>C, XM_017021841.2:c.431T>C, XM_017021841.1:c.431T>C, XM_024449794.2:c.1232T>C, XM_024449794.1:c.1232T>C, NM_001048205.2:c.1232T>C, NM_001048205.1:c.1232T>C, XM_047432024.1:c.431T>C, XP_011535723.1:p.Val411Ala, NP_005123.2:p.Val411Ala, XP_016877330.1:p.Val144Ala, XP_024305562.1:p.Val411Ala, NP_001041670.1:p.Val411Ala, XP_047287980.1:p.Val144Ala

Select item 145701842315.

rs1457018423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24179953 (GRCh38)
14:24649159 (GRCh37)
Canonical SPDI:: NC_000014.9:24179952:G:A
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24179953G>A, NW_018654722.1:g.480931G>A, NC_000014.8:g.24649159G>A, XM_011537421.3:c.1605G>A, XM_011537421.2:c.1605G>A, XM_011537421.1:c.1605G>A, XM_017021841.3:c.804G>A, XM_017021841.2:c.804G>A, XM_017021841.1:c.804G>A, XM_024449794.2:c.1605G>A, XM_024449794.1:c.1605G>A

Select item 145661700516.

rs1456617005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24180056 (GRCh38)
14:24649262 (GRCh37)
Canonical SPDI:: NC_000014.9:24180055:T:C
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24180056T>C, NW_018654722.1:g.481034T>C, NC_000014.8:g.24649262T>C, XM_011537421.3:c.1708T>C, XM_011537421.2:c.1708T>C, XM_011537421.1:c.1708T>C, NM_005132.3:c.1605T>C, NM_005132.2:c.1605T>C, XM_017021841.3:c.907T>C, XM_017021841.2:c.907T>C, XM_017021841.1:c.907T>C, XM_024449794.2:c.1708T>C, XM_024449794.1:c.1708T>C, NM_001048205.2:c.1605T>C, NM_001048205.1:c.1605T>C, XM_047432024.1:c.804T>C, XP_011535723.1:p.Trp570Arg, XP_016877330.1:p.Trp303Arg, XP_024305562.1:p.Trp570Arg

Select item 145241484717.

rs1452414847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:24178118 (GRCh38)
14:24647324 (GRCh37)
Canonical SPDI:: NC_000014.9:24178117:C:A,NC_000014.9:24178117:C:T
Gene:: REC8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24178118C>A, NC_000014.9:g.24178118C>T, NW_018654722.1:g.479096C>A, NW_018654722.1:g.479096C>T, NC_000014.8:g.24647324C>A, NC_000014.8:g.24647324C>T, XM_011537421.3:c.892C>A, XM_011537421.3:c.892C>T, XM_011537421.2:c.892C>A, XM_011537421.2:c.892C>T, XM_011537421.1:c.892C>A, XM_011537421.1:c.892C>T, NM_005132.3:c.892C>A, NM_005132.3:c.892C>T, NM_005132.2:c.892C>A, NM_005132.2:c.892C>T, XM_017021841.3:c.91C>A, XM_017021841.3:c.91C>T, XM_017021841.2:c.91C>A, XM_017021841.2:c.91C>T, XM_017021841.1:c.91C>A, XM_017021841.1:c.91C>T, XM_024449794.2:c.892C>A, XM_024449794.2:c.892C>T, XM_024449794.1:c.892C>A, XM_024449794.1:c.892C>T, NM_001048205.2:c.892C>A, NM_001048205.2:c.892C>T, NM_001048205.1:c.892C>A, NM_001048205.1:c.892C>T, XR_007064052.1:n.1264C>A, XR_007064052.1:n.1264C>T, XM_047432022.1:c.*273C>A, XM_047432022.1:c.*273C>T, XM_047432024.1:c.91C>A, XM_047432024.1:c.91C>T, XM_047432023.1:c.*273C>A, XM_047432023.1:c.*273C>T, XP_011535723.1:p.Arg298Ser, XP_011535723.1:p.Arg298Cys, NP_005123.2:p.Arg298Ser, NP_005123.2:p.Arg298Cys, XP_016877330.1:p.Arg31Ser, XP_016877330.1:p.Arg31Cys, XP_024305562.1:p.Arg298Ser, XP_024305562.1:p.Arg298Cys, NP_001041670.1:p.Arg298Ser, NP_001041670.1:p.Arg298Cys, XP_047287980.1:p.Arg31Ser, XP_047287980.1:p.Arg31Cys

Select item 145100099818.

rs1451000998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24179823 (GRCh38)
14:24649029 (GRCh37)
Canonical SPDI:: NC_000014.9:24179822:C:G
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24179823C>G, NW_018654722.1:g.480801C>G, NC_000014.8:g.24649029C>G, XM_011537421.3:c.1475C>G, XM_011537421.2:c.1475C>G, XM_011537421.1:c.1475C>G, NM_005132.3:c.1475C>G, NM_005132.2:c.1475C>G, XM_017021841.3:c.674C>G, XM_017021841.2:c.674C>G, XM_017021841.1:c.674C>G, NM_001048205.2:c.1475C>G, NM_001048205.1:c.1475C>G, XM_024449794.2:c.1475C>G, XM_024449794.1:c.1475C>G, XM_047432024.1:c.674C>G, XP_011535723.1:p.Ala492Gly, NP_005123.2:p.Ala492Gly, XP_016877330.1:p.Ala225Gly, NP_001041670.1:p.Ala492Gly, XP_024305562.1:p.Ala492Gly, XP_047287980.1:p.Ala225Gly

Select item 144417688919.

rs1444176889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24178641 (GRCh38)
14:24647847 (GRCh37)
Canonical SPDI:: NC_000014.9:24178640:C:A
Gene:: REC8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24178641C>A, NW_018654722.1:g.479619C>A, NC_000014.8:g.24647847C>A, XM_011537421.3:c.1032C>A, XM_011537421.2:c.1032C>A, XM_011537421.1:c.1032C>A, NM_005132.3:c.1032C>A, NM_005132.2:c.1032C>A, XM_017021841.3:c.231C>A, XM_017021841.2:c.231C>A, XM_017021841.1:c.231C>A, XM_024449794.2:c.1032C>A, XM_024449794.1:c.1032C>A, NM_001048205.2:c.1032C>A, NM_001048205.1:c.1032C>A, XR_007064052.1:n.1404C>A, XM_047432024.1:c.231C>A

Select item 143941163420.

rs1439411634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:24180071 (GRCh38)
14:24649277 (GRCh37)
Canonical SPDI:: NC_000014.9:24180070:C:A,NC_000014.9:24180070:C:T
Gene:: REC8 (Varview), IPO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24180071C>A, NC_000014.9:g.24180071C>T, NW_018654722.1:g.481049C>A, NW_018654722.1:g.481049C>T, NC_000014.8:g.24649277C>A, NC_000014.8:g.24649277C>T, XM_011537421.3:c.1723C>A, XM_011537421.3:c.1723C>T, XM_011537421.2:c.1723C>A, XM_011537421.2:c.1723C>T, XM_011537421.1:c.1723C>A, XM_011537421.1:c.1723C>T, NM_005132.3:c.1620C>A, NM_005132.3:c.1620C>T, NM_005132.2:c.1620C>A, NM_005132.2:c.1620C>T, XM_017021841.3:c.922C>A, XM_017021841.3:c.922C>T, XM_017021841.2:c.922C>A, XM_017021841.2:c.922C>T, XM_017021841.1:c.922C>A, XM_017021841.1:c.922C>T, XM_024449794.2:c.1723C>A, XM_024449794.2:c.1723C>T, XM_024449794.1:c.1723C>A, XM_024449794.1:c.1723C>T, NM_001048205.2:c.1620C>A, NM_001048205.2:c.1620C>T, NM_001048205.1:c.1620C>A, NM_001048205.1:c.1620C>T, XM_047432024.1:c.819C>A, XM_047432024.1:c.819C>T, XP_011535723.1:p.Pro575Thr, XP_011535723.1:p.Pro575Ser, XP_016877330.1:p.Pro308Thr, XP_016877330.1:p.Pro308Ser, XP_024305562.1:p.Pro575Thr, XP_024305562.1:p.Pro575Ser

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