SNP Links for Protein (Select 1034660227) - 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 14765802846.

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 14757779887.

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 14748897778.

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 14741358969.

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 147219981410.

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 147108264111.

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 146639142812.

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

Select item 146508740613.

rs1465087406 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:28069623 (GRCh38)
8:27927140 (GRCh37)
Canonical SPDI:: NC_000008.11:28069622:CCC:CC
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28069625del, NC_000008.10:g.27927142del, XM_011544524.4:c.250del, XM_011544524.3:c.250del, XM_011544524.2:c.250del, XM_011544524.1:c.250del, XM_011544523.3:c.250del, XM_011544523.2:c.250del, XM_011544523.1:c.250del, XM_011544526.3:c.250del, XM_011544526.2:c.250del, XM_011544526.1:c.250del, NM_001010906.2:c.178del, NM_001010906.1:c.178del, XM_017013403.2:c.250del, XM_017013403.1:c.250del, XP_011542826.1:p.Val84fs, XP_011542825.1:p.Val84fs, XP_011542828.1:p.Val84fs, NP_001010906.1:p.Val60fs, XP_016868892.1:p.Val84fs

Select item 146489153014.

rs1464891530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:28064610 (GRCh38)
8:27922127 (GRCh37)
Canonical SPDI:: NC_000008.11:28064609:T:G
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.28064610T>G, NC_000008.10:g.27922127T>G, XM_011544524.4:c.905A>C, XM_011544524.3:c.905A>C, XM_011544524.2:c.905A>C, XM_011544524.1:c.905A>C, XM_011544523.3:c.905A>C, XM_011544523.2:c.905A>C, XM_011544523.1:c.905A>C, XM_011544526.3:c.905A>C, XM_011544526.2:c.905A>C, XM_011544526.1:c.905A>C, NM_001010906.2:c.833A>C, NM_001010906.1:c.833A>C, XM_017013403.2:c.905A>C, XM_017013403.1:c.905A>C, XP_011542826.1:p.Lys302Thr, XP_011542825.1:p.Lys302Thr, XP_011542828.1:p.Lys302Thr, NP_001010906.1:p.Lys278Thr, XP_016868892.1:p.Lys302Thr

Select item 146368720915.

rs1463687209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:28074394 (GRCh38)
8:27931911 (GRCh37)
Canonical SPDI:: NC_000008.11:28074393:T:A,NC_000008.11:28074393:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.28074394T>A, NC_000008.11:g.28074394T>C, NC_000008.10:g.27931911T>A, NC_000008.10:g.27931911T>C, XM_011544524.4:c.17A>T, XM_011544524.4:c.17A>G, XM_011544524.3:c.17A>T, XM_011544524.3:c.17A>G, XM_011544524.2:c.17A>T, XM_011544524.2:c.17A>G, XM_011544524.1:c.17A>T, XM_011544524.1:c.17A>G, XM_011544523.3:c.17A>T, XM_011544523.3:c.17A>G, XM_011544523.2:c.17A>T, XM_011544523.2:c.17A>G, XM_011544523.1:c.17A>T, XM_011544523.1:c.17A>G, XM_011544526.3:c.17A>T, XM_011544526.3:c.17A>G, XM_011544526.2:c.17A>T, XM_011544526.2:c.17A>G, XM_011544526.1:c.17A>T, XM_011544526.1:c.17A>G, NM_001010906.2:c.17A>T, NM_001010906.2:c.17A>G, NM_001010906.1:c.17A>T, NM_001010906.1:c.17A>G, XM_017013403.2:c.17A>T, XM_017013403.2:c.17A>G, XM_017013403.1:c.17A>T, XM_017013403.1:c.17A>G, XP_011542826.1:p.Asp6Val, XP_011542826.1:p.Asp6Gly, XP_011542825.1:p.Asp6Val, XP_011542825.1:p.Asp6Gly, XP_011542828.1:p.Asp6Val, XP_011542828.1:p.Asp6Gly, NP_001010906.1:p.Asp6Val, NP_001010906.1:p.Asp6Gly, XP_016868892.1:p.Asp6Val, XP_016868892.1:p.Asp6Gly

Select item 146150910316.

rs1461509103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:28069637 (GRCh38)
8:27927154 (GRCh37)
Canonical SPDI:: NC_000008.11:28069636:G:A
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.28069637G>A, NC_000008.10:g.27927154G>A, XM_011544524.4:c.236C>T, XM_011544524.3:c.236C>T, XM_011544524.2:c.236C>T, XM_011544524.1:c.236C>T, XM_011544523.3:c.236C>T, XM_011544523.2:c.236C>T, XM_011544523.1:c.236C>T, XM_011544526.3:c.236C>T, XM_011544526.2:c.236C>T, XM_011544526.1:c.236C>T, NM_001010906.2:c.164C>T, NM_001010906.1:c.164C>T, XM_017013403.2:c.236C>T, XM_017013403.1:c.236C>T, XP_011542826.1:p.Ser79Leu, XP_011542825.1:p.Ser79Leu, XP_011542828.1:p.Ser79Leu, NP_001010906.1:p.Ser55Leu, XP_016868892.1:p.Ser79Leu

Select item 146129921017.

rs1461299210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:28067532 (GRCh38)
8:27925049 (GRCh37)
Canonical SPDI:: NC_000008.11:28067531:G:A
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.28067532G>A, NC_000008.10:g.27925049G>A, XM_011544524.4:c.765C>T, XM_011544524.3:c.765C>T, XM_011544524.2:c.765C>T, XM_011544524.1:c.765C>T, XM_011544523.3:c.765C>T, XM_011544523.2:c.765C>T, XM_011544523.1:c.765C>T, XM_011544526.3:c.765C>T, XM_011544526.2:c.765C>T, XM_011544526.1:c.765C>T, NM_001010906.2:c.693C>T, NM_001010906.1:c.693C>T, XM_017013403.2:c.765C>T, XM_017013403.1:c.765C>T

Select item 146113401118.

rs1461134011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:28068389 (GRCh38)
8:27925906 (GRCh37)
Canonical SPDI:: NC_000008.11:28068388:T:C
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28068389T>C, NC_000008.10:g.27925906T>C, XM_011544524.4:c.379A>G, XM_011544524.3:c.379A>G, XM_011544524.2:c.379A>G, XM_011544524.1:c.379A>G, XM_011544523.3:c.379A>G, XM_011544523.2:c.379A>G, XM_011544523.1:c.379A>G, XM_011544526.3:c.379A>G, XM_011544526.2:c.379A>G, XM_011544526.1:c.379A>G, NM_001010906.2:c.307A>G, NM_001010906.1:c.307A>G, XM_017013403.2:c.379A>G, XM_017013403.1:c.379A>G, XP_011542826.1:p.Ile127Val, XP_011542825.1:p.Ile127Val, XP_011542828.1:p.Ile127Val, NP_001010906.1:p.Ile103Val, XP_016868892.1:p.Ile127Val

Select item 145964750119.

rs1459647501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:28068322 (GRCh38)
8:27925839 (GRCh37)
Canonical SPDI:: NC_000008.11:28068321:A:G,NC_000008.11:28068321:A:T
Gene:: NUGGC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.28068322A>G, NC_000008.11:g.28068322A>T, NC_000008.10:g.27925839A>G, NC_000008.10:g.27925839A>T, XM_011544524.4:c.446T>C, XM_011544524.4:c.446T>A, XM_011544524.3:c.446T>C, XM_011544524.3:c.446T>A, XM_011544524.2:c.446T>C, XM_011544524.2:c.446T>A, XM_011544524.1:c.446T>C, XM_011544524.1:c.446T>A, XM_011544523.3:c.446T>C, XM_011544523.3:c.446T>A, XM_011544523.2:c.446T>C, XM_011544523.2:c.446T>A, XM_011544523.1:c.446T>C, XM_011544523.1:c.446T>A, XM_011544526.3:c.446T>C, XM_011544526.3:c.446T>A, XM_011544526.2:c.446T>C, XM_011544526.2:c.446T>A, XM_011544526.1:c.446T>C, XM_011544526.1:c.446T>A, NM_001010906.2:c.374T>C, NM_001010906.2:c.374T>A, NM_001010906.1:c.374T>C, NM_001010906.1:c.374T>A, XM_017013403.2:c.446T>C, XM_017013403.2:c.446T>A, XM_017013403.1:c.446T>C, XM_017013403.1:c.446T>A, XP_011542826.1:p.Met149Thr, XP_011542826.1:p.Met149Lys, XP_011542825.1:p.Met149Thr, XP_011542825.1:p.Met149Lys, XP_011542828.1:p.Met149Thr, XP_011542828.1:p.Met149Lys, NP_001010906.1:p.Met125Thr, NP_001010906.1:p.Met125Lys, XP_016868892.1:p.Met149Thr, XP_016868892.1:p.Met149Lys

Select item 145750805820.

rs1457508058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:28064566 (GRCh38)
8:27922083 (GRCh37)
Canonical SPDI:: NC_000008.11:28064565:C:T
Gene:: NUGGC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.28064566C>T, NC_000008.10:g.27922083C>T, XM_011544524.4:c.949G>A, XM_011544524.3:c.949G>A, XM_011544524.2:c.949G>A, XM_011544524.1:c.949G>A, XM_011544523.3:c.949G>A, XM_011544523.2:c.949G>A, XM_011544523.1:c.949G>A, XM_011544526.3:c.949G>A, XM_011544526.2:c.949G>A, XM_011544526.1:c.949G>A, NM_001010906.2:c.877G>A, NM_001010906.1:c.877G>A, XM_017013403.2:c.949G>A, XM_017013403.1:c.949G>A, XP_011542826.1:p.Gly317Ser, XP_011542825.1:p.Gly317Ser, XP_011542828.1:p.Gly317Ser, NP_001010906.1:p.Gly293Ser, XP_016868892.1:p.Gly317Ser

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