SNP Links for Protein (Select 149944486) - SNP

Links from Protein

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Select item 14863024501.

rs1486302450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28060530 (GRCh38)
8:27918047 (GRCh37)
Canonical SPDI:: NC_000008.11:28060529:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28060530T>C, NC_000008.10:g.27918047T>C, XM_011544524.4:c.1065A>G, XM_011544524.3:c.1065A>G, XM_011544524.2:c.1065A>G, XM_011544524.1:c.1065A>G, XM_011544523.3:c.1065A>G, XM_011544523.2:c.1065A>G, XM_011544523.1:c.1065A>G, XM_011544526.3:c.1065A>G, XM_011544526.2:c.1065A>G, XM_011544526.1:c.1065A>G, NM_001010906.2:c.993A>G, NM_001010906.1:c.993A>G, XM_017013403.2:c.1065A>G, XM_017013403.1:c.1065A>G

Select item 14862523922.

rs1486252392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:28067714 (GRCh38)
8:27925231 (GRCh37)
Canonical SPDI:: NC_000008.11:28067713:T:A
Gene:: NUGGC (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.28067714T>A, NC_000008.10:g.27925231T>A, XM_011544524.4:c.583A>T, XM_011544524.3:c.583A>T, XM_011544524.2:c.583A>T, XM_011544524.1:c.583A>T, XM_011544523.3:c.583A>T, XM_011544523.2:c.583A>T, XM_011544523.1:c.583A>T, XM_011544526.3:c.583A>T, XM_011544526.2:c.583A>T, XM_011544526.1:c.583A>T, NM_001010906.2:c.511A>T, NM_001010906.1:c.511A>T, XM_017013403.2:c.583A>T, XM_017013403.1:c.583A>T, XP_011542826.1:p.Lys195Ter, XP_011542825.1:p.Lys195Ter, XP_011542828.1:p.Lys195Ter, NP_001010906.1:p.Lys171Ter, XP_016868892.1:p.Lys195Ter

Select item 14846102373.

rs1484610237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:28068427 (GRCh38)
8:27925944 (GRCh37)
Canonical SPDI:: NC_000008.11:28068426:A:T
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28068427A>T, NC_000008.10:g.27925944A>T, XM_011544524.4:c.341T>A, XM_011544524.3:c.341T>A, XM_011544524.2:c.341T>A, XM_011544524.1:c.341T>A, XM_011544523.3:c.341T>A, XM_011544523.2:c.341T>A, XM_011544523.1:c.341T>A, XM_011544526.3:c.341T>A, XM_011544526.2:c.341T>A, XM_011544526.1:c.341T>A, NM_001010906.2:c.269T>A, NM_001010906.1:c.269T>A, XM_017013403.2:c.341T>A, XM_017013403.1:c.341T>A, XP_011542826.1:p.Leu114His, XP_011542825.1:p.Leu114His, XP_011542828.1:p.Leu114His, NP_001010906.1:p.Leu90His, XP_016868892.1:p.Leu114His

Select item 14828919624.

rs1482891962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28064700 (GRCh38)
8:27922217 (GRCh37)
Canonical SPDI:: NC_000008.11:28064699:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.28064700T>C, NC_000008.10:g.27922217T>C, XM_011544524.4:c.815A>G, XM_011544524.3:c.815A>G, XM_011544524.2:c.815A>G, XM_011544524.1:c.815A>G, XM_011544523.3:c.815A>G, XM_011544523.2:c.815A>G, XM_011544523.1:c.815A>G, XM_011544526.3:c.815A>G, XM_011544526.2:c.815A>G, XM_011544526.1:c.815A>G, NM_001010906.2:c.743A>G, NM_001010906.1:c.743A>G, XM_017013403.2:c.815A>G, XM_017013403.1:c.815A>G, XP_011542826.1:p.Tyr272Cys, XP_011542825.1:p.Tyr272Cys, XP_011542828.1:p.Tyr272Cys, NP_001010906.1:p.Tyr248Cys, XP_016868892.1:p.Tyr272Cys

Select item 14824017045.

rs1482401704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:28047566 (GRCh38)
8:27905083 (GRCh37)
Canonical SPDI:: NC_000008.11:28047565:A:G
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000008.11:g.28047566A>G, NC_000008.10:g.27905083A>G, XM_011544524.4:c.1325T>C, XM_011544524.3:c.1325T>C, XM_011544524.2:c.1325T>C, XM_011544524.1:c.1325T>C, XM_011544523.3:c.1325T>C, XM_011544523.2:c.1325T>C, XM_011544523.1:c.1325T>C, NM_001010906.2:c.1253T>C, NM_001010906.1:c.1253T>C, XM_011544525.2:c.92T>C, XM_011544525.1:c.92T>C, XM_017013403.2:c.1216T>C, XM_017013403.1:c.1216T>C, XP_011542826.1:p.Val442Ala, XP_011542825.1:p.Val442Ala, NP_001010906.1:p.Val418Ala, XP_011542827.1:p.Val31Ala, XP_016868892.1:p.Cys406Arg

Select item 14811003516.

rs1481100351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:28056003 (GRCh38)
8:27913520 (GRCh37)
Canonical SPDI:: NC_000008.11:28056002:T:A
Gene:: NUGGC (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.28056003T>A, NC_000008.10:g.27913520T>A, XM_011544524.4:c.1240A>T, XM_011544524.3:c.1240A>T, XM_011544524.2:c.1240A>T, XM_011544524.1:c.1240A>T, XM_011544523.3:c.1240A>T, XM_011544523.2:c.1240A>T, XM_011544523.1:c.1240A>T, XM_011544526.3:c.*18A>T, XM_011544526.2:c.*18A>T, XM_011544526.1:c.*18A>T, NM_001010906.2:c.1168A>T, NM_001010906.1:c.1168A>T, XM_011544525.2:c.7A>T, XM_011544525.1:c.7A>T, XP_011542826.1:p.Lys414Ter, XP_011542825.1:p.Lys414Ter, NP_001010906.1:p.Lys390Ter, XP_011542827.1:p.Lys3Ter

Select item 14806343257.

rs1480634325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28023344 (GRCh38)
8:27880861 (GRCh37)
Canonical SPDI:: NC_000008.11:28023343:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.28023344C>T, NC_000008.10:g.27880861C>T, XM_011544524.4:c.2436G>A, XM_011544524.3:c.2436G>A, XM_011544524.2:c.2436G>A, XM_011544524.1:c.2436G>A, XM_011544523.3:c.2436G>A, XM_011544523.2:c.2436G>A, XM_011544523.1:c.2436G>A, NM_001010906.2:c.2364G>A, NM_001010906.1:c.2364G>A, XM_011544525.2:c.1203G>A, XM_011544525.1:c.1203G>A

Select item 14785453348.

rs1478545334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:28033561 (GRCh38)
8:27891078 (GRCh37)
Canonical SPDI:: NC_000008.11:28033560:G:A,NC_000008.11:28033560:G:C
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.28033561G>A, NC_000008.11:g.28033561G>C, NC_000008.10:g.27891078G>A, NC_000008.10:g.27891078G>C, XM_011544524.4:c.1820C>T, XM_011544524.4:c.1820C>G, XM_011544524.3:c.1820C>T, XM_011544524.3:c.1820C>G, XM_011544524.2:c.1820C>T, XM_011544524.2:c.1820C>G, XM_011544524.1:c.1820C>T, XM_011544524.1:c.1820C>G, XM_011544523.3:c.1820C>T, XM_011544523.3:c.1820C>G, XM_011544523.2:c.1820C>T, XM_011544523.2:c.1820C>G, XM_011544523.1:c.1820C>T, XM_011544523.1:c.1820C>G, NM_001010906.2:c.1748C>T, NM_001010906.2:c.1748C>G, NM_001010906.1:c.1748C>T, NM_001010906.1:c.1748C>G, XM_011544525.2:c.587C>T, XM_011544525.2:c.587C>G, XM_011544525.1:c.587C>T, XM_011544525.1:c.587C>G, XP_011542826.1:p.Pro607Leu, XP_011542826.1:p.Pro607Arg, XP_011542825.1:p.Pro607Leu, XP_011542825.1:p.Pro607Arg, NP_001010906.1:p.Pro583Leu, NP_001010906.1:p.Pro583Arg, XP_011542827.1:p.Pro196Leu, XP_011542827.1:p.Pro196Arg

Select item 14769101189.

rs1476910118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:28041107 (GRCh38)
8:27898624 (GRCh37)
Canonical SPDI:: NC_000008.11:28041106:C:G
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28041107C>G, NC_000008.10:g.27898624C>G, XM_011544524.4:c.1627G>C, XM_011544524.3:c.1627G>C, XM_011544524.2:c.1627G>C, XM_011544524.1:c.1627G>C, XM_011544523.3:c.1627G>C, XM_011544523.2:c.1627G>C, XM_011544523.1:c.1627G>C, NM_001010906.2:c.1555G>C, NM_001010906.1:c.1555G>C, XM_011544525.2:c.394G>C, XM_011544525.1:c.394G>C, XP_011542826.1:p.Glu543Gln, XP_011542825.1:p.Glu543Gln, NP_001010906.1:p.Glu519Gln, XP_011542827.1:p.Glu132Gln

Select item 147658028410.

rs1476580284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:28067721 (GRCh38)
8:27925238 (GRCh37)
Canonical SPDI:: NC_000008.11:28067720:G:T
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28067721G>T, NC_000008.10:g.27925238G>T, XM_011544524.4:c.576C>A, XM_011544524.3:c.576C>A, XM_011544524.2:c.576C>A, XM_011544524.1:c.576C>A, XM_011544523.3:c.576C>A, XM_011544523.2:c.576C>A, XM_011544523.1:c.576C>A, XM_011544526.3:c.576C>A, XM_011544526.2:c.576C>A, XM_011544526.1:c.576C>A, NM_001010906.2:c.504C>A, NM_001010906.1:c.504C>A, XM_017013403.2:c.576C>A, XM_017013403.1:c.576C>A, XP_011542826.1:p.Asn192Lys, XP_011542825.1:p.Asn192Lys, XP_011542828.1:p.Asn192Lys, NP_001010906.1:p.Asn168Lys, XP_016868892.1:p.Asn192Lys

Select item 147577798811.

rs1475777988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:28067678 (GRCh38)
8:27925195 (GRCh37)
Canonical SPDI:: NC_000008.11:28067677:C:A,NC_000008.11:28067677:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: stop_gained,missense_variant,genic_upstream_transcript_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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28067678C>A, NC_000008.11:g.28067678C>T, NC_000008.10:g.27925195C>A, NC_000008.10:g.27925195C>T, XM_011544524.4:c.619G>T, XM_011544524.4:c.619G>A, XM_011544524.3:c.619G>T, XM_011544524.3:c.619G>A, XM_011544524.2:c.619G>T, XM_011544524.2:c.619G>A, XM_011544524.1:c.619G>T, XM_011544524.1:c.619G>A, XM_011544523.3:c.619G>T, XM_011544523.3:c.619G>A, XM_011544523.2:c.619G>T, XM_011544523.2:c.619G>A, XM_011544523.1:c.619G>T, XM_011544523.1:c.619G>A, XM_011544526.3:c.619G>T, XM_011544526.3:c.619G>A, XM_011544526.2:c.619G>T, XM_011544526.2:c.619G>A, XM_011544526.1:c.619G>T, XM_011544526.1:c.619G>A, NM_001010906.2:c.547G>T, NM_001010906.2:c.547G>A, NM_001010906.1:c.547G>T, NM_001010906.1:c.547G>A, XM_017013403.2:c.619G>T, XM_017013403.2:c.619G>A, XM_017013403.1:c.619G>T, XM_017013403.1:c.619G>A, XP_011542826.1:p.Glu207Ter, XP_011542826.1:p.Glu207Lys, XP_011542825.1:p.Glu207Ter, XP_011542825.1:p.Glu207Lys, XP_011542828.1:p.Glu207Ter, XP_011542828.1:p.Glu207Lys, NP_001010906.1:p.Glu183Ter, NP_001010906.1:p.Glu183Lys, XP_016868892.1:p.Glu207Ter, XP_016868892.1:p.Glu207Lys

Select item 147488977712.

rs1474889777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28067649 (GRCh38)
8:27925166 (GRCh37)
Canonical SPDI:: NC_000008.11:28067648:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.28067649T>C, NC_000008.10:g.27925166T>C, XM_011544524.4:c.648A>G, XM_011544524.3:c.648A>G, XM_011544524.2:c.648A>G, XM_011544524.1:c.648A>G, XM_011544523.3:c.648A>G, XM_011544523.2:c.648A>G, XM_011544523.1:c.648A>G, XM_011544526.3:c.648A>G, XM_011544526.2:c.648A>G, XM_011544526.1:c.648A>G, NM_001010906.2:c.576A>G, NM_001010906.1:c.576A>G, XM_017013403.2:c.648A>G, XM_017013403.1:c.648A>G

Select item 147475399113.

rs1474753991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:28030347 (GRCh38)
8:27887864 (GRCh37)
Canonical SPDI:: NC_000008.11:28030346:A:T
Gene:: NUGGC (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000008.11:g.28030347A>T, NC_000008.10:g.27887864A>T, XM_011544524.4:c.2052T>A, XM_011544524.3:c.2052T>A, XM_011544524.2:c.2052T>A, XM_011544524.1:c.2052T>A, XM_011544523.3:c.2052T>A, XM_011544523.2:c.2052T>A, XM_011544523.1:c.2052T>A, NM_001010906.2:c.1980T>A, NM_001010906.1:c.1980T>A, XM_011544525.2:c.819T>A, XM_011544525.1:c.819T>A

Select item 147413589614.

rs1474135896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28068373 (GRCh38)
8:27925890 (GRCh37)
Canonical SPDI:: NC_000008.11:28068372:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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_000008.11:g.28068373C>T, NC_000008.10:g.27925890C>T, XM_011544524.4:c.395G>A, XM_011544524.3:c.395G>A, XM_011544524.2:c.395G>A, XM_011544524.1:c.395G>A, XM_011544523.3:c.395G>A, XM_011544523.2:c.395G>A, XM_011544523.1:c.395G>A, XM_011544526.3:c.395G>A, XM_011544526.2:c.395G>A, XM_011544526.1:c.395G>A, NM_001010906.2:c.323G>A, NM_001010906.1:c.323G>A, XM_017013403.2:c.395G>A, XM_017013403.1:c.395G>A, XP_011542826.1:p.Ser132Asn, XP_011542825.1:p.Ser132Asn, XP_011542828.1:p.Ser132Asn, NP_001010906.1:p.Ser108Asn, XP_016868892.1:p.Ser132Asn

Select item 147219981415.

rs1472199814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:28060465 (GRCh38)
8:27917982 (GRCh37)
Canonical SPDI:: NC_000008.11:28060464:A:G
Gene:: NUGGC (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000008.11:g.28060465A>G, NC_000008.10:g.27917982A>G, XM_011544524.4:c.1130T>C, XM_011544524.3:c.1130T>C, XM_011544524.2:c.1130T>C, XM_011544524.1:c.1130T>C, XM_011544523.3:c.1130T>C, XM_011544523.2:c.1130T>C, XM_011544523.1:c.1130T>C, XM_011544526.3:c.1130T>C, XM_011544526.2:c.1130T>C, XM_011544526.1:c.1130T>C, NM_001010906.2:c.1058T>C, NM_001010906.1:c.1058T>C, XM_011544525.2:c.-85T>C, XM_011544525.1:c.-85T>C, XM_017013403.2:c.1130T>C, XM_017013403.1:c.1130T>C, XP_011542826.1:p.Val377Ala, XP_011542825.1:p.Val377Ala, XP_011542828.1:p.Val377Ala, NP_001010906.1:p.Val353Ala, XP_016868892.1:p.Val377Ala

Select item 147108264116.

rs1471082641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28068298 (GRCh38)
8:27925815 (GRCh37)
Canonical SPDI:: NC_000008.11:28068297:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28068298C>T, NC_000008.10:g.27925815C>T, XM_011544524.4:c.470G>A, XM_011544524.3:c.470G>A, XM_011544524.2:c.470G>A, XM_011544524.1:c.470G>A, XM_011544523.3:c.470G>A, XM_011544523.2:c.470G>A, XM_011544523.1:c.470G>A, XM_011544526.3:c.470G>A, XM_011544526.2:c.470G>A, XM_011544526.1:c.470G>A, NM_001010906.2:c.398G>A, NM_001010906.1:c.398G>A, XM_017013403.2:c.470G>A, XM_017013403.1:c.470G>A, XP_011542826.1:p.Ser157Asn, XP_011542825.1:p.Ser157Asn, XP_011542828.1:p.Ser157Asn, NP_001010906.1:p.Ser133Asn, XP_016868892.1:p.Ser157Asn

Select item 146998809117.

rs1469988091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28033633 (GRCh38)
8:27891150 (GRCh37)
Canonical SPDI:: NC_000008.11:28033632:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28033633T>C, NC_000008.10:g.27891150T>C, XM_011544524.4:c.1748A>G, XM_011544524.3:c.1748A>G, XM_011544524.2:c.1748A>G, XM_011544524.1:c.1748A>G, XM_011544523.3:c.1748A>G, XM_011544523.2:c.1748A>G, XM_011544523.1:c.1748A>G, NM_001010906.2:c.1676A>G, NM_001010906.1:c.1676A>G, XM_011544525.2:c.515A>G, XM_011544525.1:c.515A>G, XP_011542826.1:p.Tyr583Cys, XP_011542825.1:p.Tyr583Cys, NP_001010906.1:p.Tyr559Cys, XP_011542827.1:p.Tyr172Cys

Select item 146870417618.

rs1468704176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28029304 (GRCh38)
8:27886821 (GRCh37)
Canonical SPDI:: NC_000008.11:28029303:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000008.11:g.28029304C>T, NC_000008.10:g.27886821C>T, XM_011544524.4:c.2188G>A, XM_011544524.3:c.2188G>A, XM_011544524.2:c.2188G>A, XM_011544524.1:c.2188G>A, XM_011544523.3:c.2188G>A, XM_011544523.2:c.2188G>A, XM_011544523.1:c.2188G>A, NM_001010906.2:c.2116G>A, NM_001010906.1:c.2116G>A, XM_011544525.2:c.955G>A, XM_011544525.1:c.955G>A, XP_011542826.1:p.Ala730Thr, XP_011542825.1:p.Ala730Thr, NP_001010906.1:p.Ala706Thr, XP_011542827.1:p.Ala319Thr

Select item 146714218319.

rs1467142183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:28029317 (GRCh38)
8:27886834 (GRCh37)
Canonical SPDI:: NC_000008.11:28029316:G:A,NC_000008.11:28029316:G:C
Gene:: NUGGC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.28029317G>A, NC_000008.11:g.28029317G>C, NC_000008.10:g.27886834G>A, NC_000008.10:g.27886834G>C, XM_011544524.4:c.2175C>T, XM_011544524.4:c.2175C>G, XM_011544524.3:c.2175C>T, XM_011544524.3:c.2175C>G, XM_011544524.2:c.2175C>T, XM_011544524.2:c.2175C>G, XM_011544524.1:c.2175C>T, XM_011544524.1:c.2175C>G, XM_011544523.3:c.2175C>T, XM_011544523.3:c.2175C>G, XM_011544523.2:c.2175C>T, XM_011544523.2:c.2175C>G, XM_011544523.1:c.2175C>T, XM_011544523.1:c.2175C>G, NM_001010906.2:c.2103C>T, NM_001010906.2:c.2103C>G, NM_001010906.1:c.2103C>T, NM_001010906.1:c.2103C>G, XM_011544525.2:c.942C>T, XM_011544525.2:c.942C>G, XM_011544525.1:c.942C>T, XM_011544525.1:c.942C>G

Select item 146639142820.

rs1466391428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:28070300 (GRCh38)
8:27927817 (GRCh37)
Canonical SPDI:: NC_000008.11:28070299:G:A
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28070300G>A, NC_000008.10:g.27927817G>A, XM_011544524.4:c.100C>T, XM_011544524.3:c.100C>T, XM_011544524.2:c.100C>T, XM_011544524.1:c.100C>T, XM_011544523.3:c.100C>T, XM_011544523.2:c.100C>T, XM_011544523.1:c.100C>T, XM_011544526.3:c.100C>T, XM_011544526.2:c.100C>T, XM_011544526.1:c.100C>T, NM_001010906.2:c.100C>T, NM_001010906.1:c.100C>T, XM_017013403.2:c.100C>T, XM_017013403.1:c.100C>T, XP_011542826.1:p.Gln34Ter, XP_011542825.1:p.Gln34Ter, XP_011542828.1:p.Gln34Ter, NP_001010906.1:p.Gln34Ter, XP_016868892.1:p.Gln34Ter

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