SNP Links for Protein (Select 545746292) - SNP

Links from Protein

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Select item 14799557241.

rs1479955724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24548947 (GRCh38)
22:24944915 (GRCh37)
Canonical SPDI:: NC_000022.11:24548946:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.24548947C>T, NC_000022.10:g.24944915C>T, NM_031444.4:c.98G>A, NM_031444.3:c.98G>A, NM_031444.2:c.98G>A, XM_005261761.3:c.266G>A, XM_005261761.2:c.266G>A, XM_005261761.1:c.266G>A, NM_001284251.2:c.266G>A, NM_001284251.1:c.266G>A, NM_001284252.2:c.266G>A, NM_001284252.1:c.266G>A, NM_001284254.2:c.98G>A, NM_001284254.1:c.98G>A, NM_001284253.2:c.266G>A, NM_001284253.1:c.266G>A, NM_001284255.2:c.98G>A, NM_001284255.1:c.98G>A, NM_001284256.2:c.98G>A, NM_001284256.1:c.98G>A, NM_001284257.2:c.98G>A, NM_001284257.1:c.98G>A, NP_113632.2:p.Cys33Tyr, XP_005261818.1:p.Cys89Tyr, NP_001271180.1:p.Cys89Tyr, NP_001271181.1:p.Cys89Tyr, NP_001271183.1:p.Cys33Tyr, NP_001271182.1:p.Cys89Tyr, NP_001271184.1:p.Cys33Tyr, NP_001271185.1:p.Cys33Tyr, NP_001271186.1:p.Cys33Tyr

Select item 14704066472.

rs1470406647 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 22:24546977 (GRCh38)
22:24942945 (GRCh37)
Canonical SPDI:: NC_000022.11:24546973:TCTTCT:TCT
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24546974TCT[1], NC_000022.10:g.24942942TCT[1], NM_031444.4:c.321AGA[1], NM_031444.3:c.321AGA[1], NM_031444.2:c.321AGA[1], XM_005261761.3:c.489AGA[1], XM_005261761.2:c.489AGA[1], XM_005261761.1:c.489AGA[1], NM_001284251.2:c.489AGA[1], NM_001284251.1:c.489AGA[1], NM_001284252.2:c.489AGA[1], NM_001284252.1:c.489AGA[1], NM_001284254.2:c.321AGA[1], NM_001284254.1:c.321AGA[1], NM_001284253.2:c.489AGA[1], NM_001284253.1:c.489AGA[1], NM_001284255.2:c.321AGA[1], NM_001284255.1:c.321AGA[1], NR_104286.2:n.473AGA[1], NR_104286.1:n.514AGA[1], NM_001284256.2:c.321AGA[1], NM_001284256.1:c.321AGA[1], NM_001284257.2:c.321AGA[1], NM_001284257.1:c.321AGA[1], NP_113632.2:p.Glu109del, XP_005261818.1:p.Glu165del, NP_001271180.1:p.Glu165del, NP_001271181.1:p.Glu165del, NP_001271183.1:p.Glu109del, NP_001271182.1:p.Glu165del, NP_001271184.1:p.Glu109del, NP_001271185.1:p.Glu109del, NP_001271186.1:p.Glu109del

Select item 14543263473.

rs1454326347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24548054 (GRCh38)
22:24944022 (GRCh37)
Canonical SPDI:: NC_000022.11:24548053:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.24548054C>T, NC_000022.10:g.24944022C>T, NM_031444.4:c.148G>A, NM_031444.3:c.148G>A, NM_031444.2:c.148G>A, XM_005261761.3:c.316G>A, XM_005261761.2:c.316G>A, XM_005261761.1:c.316G>A, NM_001284251.2:c.316G>A, NM_001284251.1:c.316G>A, NM_001284252.2:c.316G>A, NM_001284252.1:c.316G>A, NM_001284254.2:c.148G>A, NM_001284254.1:c.148G>A, NM_001284253.2:c.316G>A, NM_001284253.1:c.316G>A, NM_001284255.2:c.148G>A, NM_001284255.1:c.148G>A, NR_104286.2:n.300G>A, NR_104286.1:n.341G>A, NM_001284256.2:c.148G>A, NM_001284256.1:c.148G>A, NM_001284257.2:c.148G>A, NM_001284257.1:c.148G>A, NP_113632.2:p.Asp50Asn, XP_005261818.1:p.Asp106Asn, NP_001271180.1:p.Asp106Asn, NP_001271181.1:p.Asp106Asn, NP_001271183.1:p.Asp50Asn, NP_001271182.1:p.Asp106Asn, NP_001271184.1:p.Asp50Asn, NP_001271185.1:p.Asp50Asn, NP_001271186.1:p.Asp50Asn

Select item 14506685164.

rs1450668516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24547914 (GRCh38)
22:24943882 (GRCh37)
Canonical SPDI:: NC_000022.11:24547913:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24547914C>T, NC_000022.10:g.24943882C>T, NM_031444.4:c.288G>A, NM_031444.3:c.288G>A, NM_031444.2:c.288G>A, XM_005261761.3:c.456G>A, XM_005261761.2:c.456G>A, XM_005261761.1:c.456G>A, NM_001284251.2:c.456G>A, NM_001284251.1:c.456G>A, NM_001284252.2:c.456G>A, NM_001284252.1:c.456G>A, NM_001284254.2:c.288G>A, NM_001284254.1:c.288G>A, NM_001284253.2:c.456G>A, NM_001284253.1:c.456G>A, NM_001284255.2:c.288G>A, NM_001284255.1:c.288G>A, NR_104286.2:n.440G>A, NR_104286.1:n.481G>A, NM_001284256.2:c.288G>A, NM_001284256.1:c.288G>A, NM_001284257.2:c.288G>A, NM_001284257.1:c.288G>A

Select item 14461076575.

rs1446107657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24547948 (GRCh38)
22:24943916 (GRCh37)
Canonical SPDI:: NC_000022.11:24547947:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24547948C>T, NC_000022.10:g.24943916C>T, NM_031444.4:c.254G>A, NM_031444.3:c.254G>A, NM_031444.2:c.254G>A, XM_005261761.3:c.422G>A, XM_005261761.2:c.422G>A, XM_005261761.1:c.422G>A, NM_001284251.2:c.422G>A, NM_001284251.1:c.422G>A, NM_001284252.2:c.422G>A, NM_001284252.1:c.422G>A, NM_001284254.2:c.254G>A, NM_001284254.1:c.254G>A, NM_001284253.2:c.422G>A, NM_001284253.1:c.422G>A, NM_001284255.2:c.254G>A, NM_001284255.1:c.254G>A, NR_104286.2:n.406G>A, NR_104286.1:n.447G>A, NM_001284256.2:c.254G>A, NM_001284256.1:c.254G>A, NM_001284257.2:c.254G>A, NM_001284257.1:c.254G>A, NP_113632.2:p.Cys85Tyr, XP_005261818.1:p.Cys141Tyr, NP_001271180.1:p.Cys141Tyr, NP_001271181.1:p.Cys141Tyr, NP_001271183.1:p.Cys85Tyr, NP_001271182.1:p.Cys141Tyr, NP_001271184.1:p.Cys85Tyr, NP_001271185.1:p.Cys85Tyr, NP_001271186.1:p.Cys85Tyr

Select item 14427381426.

rs1442738142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24548032 (GRCh38)
22:24944000 (GRCh37)
Canonical SPDI:: NC_000022.11:24548031:A:G
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000022.11:g.24548032A>G, NC_000022.10:g.24944000A>G, NM_031444.4:c.170T>C, NM_031444.3:c.170T>C, NM_031444.2:c.170T>C, XM_005261761.3:c.338T>C, XM_005261761.2:c.338T>C, XM_005261761.1:c.338T>C, NM_001284251.2:c.338T>C, NM_001284251.1:c.338T>C, NM_001284252.2:c.338T>C, NM_001284252.1:c.338T>C, NM_001284254.2:c.170T>C, NM_001284254.1:c.170T>C, NM_001284253.2:c.338T>C, NM_001284253.1:c.338T>C, NM_001284255.2:c.170T>C, NM_001284255.1:c.170T>C, NR_104286.2:n.322T>C, NR_104286.1:n.363T>C, NM_001284256.2:c.170T>C, NM_001284256.1:c.170T>C, NM_001284257.2:c.170T>C, NM_001284257.1:c.170T>C, NP_113632.2:p.Leu57Pro, XP_005261818.1:p.Leu113Pro, NP_001271180.1:p.Leu113Pro, NP_001271181.1:p.Leu113Pro, NP_001271183.1:p.Leu57Pro, NP_001271182.1:p.Leu113Pro, NP_001271184.1:p.Leu57Pro, NP_001271185.1:p.Leu57Pro, NP_001271186.1:p.Leu57Pro

Select item 14381080917.

rs1438108091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:24547002 (GRCh38)
22:24942970 (GRCh37)
Canonical SPDI:: NC_000022.11:24547001:A:T
Gene:: GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24547002A>T, NC_000022.10:g.24942970A>T, NM_031444.4:c.298T>A, NM_031444.3:c.298T>A, NM_031444.2:c.298T>A, XM_005261761.3:c.466T>A, XM_005261761.2:c.466T>A, XM_005261761.1:c.466T>A, NM_001284251.2:c.466T>A, NM_001284251.1:c.466T>A, NM_001284252.2:c.466T>A, NM_001284252.1:c.466T>A, NM_001284254.2:c.298T>A, NM_001284254.1:c.298T>A, NM_001284253.2:c.466T>A, NM_001284253.1:c.466T>A, NM_001284255.2:c.298T>A, NM_001284255.1:c.298T>A, NR_104286.2:n.450T>A, NR_104286.1:n.491T>A, NM_001284256.2:c.298T>A, NM_001284256.1:c.298T>A, NM_001284257.2:c.298T>A, NM_001284257.1:c.298T>A, NP_113632.2:p.Phe100Ile, XP_005261818.1:p.Phe156Ile, NP_001271180.1:p.Phe156Ile, NP_001271181.1:p.Phe156Ile, NP_001271183.1:p.Phe100Ile, NP_001271182.1:p.Phe156Ile, NP_001271184.1:p.Phe100Ile, NP_001271185.1:p.Phe100Ile, NP_001271186.1:p.Phe100Ile

Select item 14363116998.

rs1436311699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24554982 (GRCh38)
22:24950950 (GRCh37)
Canonical SPDI:: NC_000022.11:24554981:C:T
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24554982C>T, NC_000022.10:g.24950950C>T, NM_031444.4:c.10G>A, NM_031444.3:c.10G>A, NM_031444.2:c.10G>A, NM_001284254.2:c.10G>A, NM_001284254.1:c.10G>A, NM_001284255.2:c.10G>A, NM_001284255.1:c.10G>A, NM_001284256.2:c.10G>A, NM_001284256.1:c.10G>A, NM_001284257.2:c.10G>A, NM_001284257.1:c.10G>A, NP_113632.2:p.Glu4Lys, NP_001271183.1:p.Glu4Lys, NP_001271184.1:p.Glu4Lys, NP_001271185.1:p.Glu4Lys, NP_001271186.1:p.Glu4Lys

Select item 14283148579.

rs1428314857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:24548937 (GRCh38)
22:24944905 (GRCh37)
Canonical SPDI:: NC_000022.11:24548936:G:A,NC_000022.11:24548936:G:C
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.24548937G>A, NC_000022.11:g.24548937G>C, NC_000022.10:g.24944905G>A, NC_000022.10:g.24944905G>C, NM_031444.4:c.108C>T, NM_031444.4:c.108C>G, NM_031444.3:c.108C>T, NM_031444.3:c.108C>G, NM_031444.2:c.108C>T, NM_031444.2:c.108C>G, XM_005261761.3:c.276C>T, XM_005261761.3:c.276C>G, XM_005261761.2:c.276C>T, XM_005261761.2:c.276C>G, XM_005261761.1:c.276C>T, XM_005261761.1:c.276C>G, NM_001284251.2:c.276C>T, NM_001284251.2:c.276C>G, NM_001284251.1:c.276C>T, NM_001284251.1:c.276C>G, NM_001284252.2:c.276C>T, NM_001284252.2:c.276C>G, NM_001284252.1:c.276C>T, NM_001284252.1:c.276C>G, NM_001284254.2:c.108C>T, NM_001284254.2:c.108C>G, NM_001284254.1:c.108C>T, NM_001284254.1:c.108C>G, NM_001284253.2:c.276C>T, NM_001284253.2:c.276C>G, NM_001284253.1:c.276C>T, NM_001284253.1:c.276C>G, NM_001284255.2:c.108C>T, NM_001284255.2:c.108C>G, NM_001284255.1:c.108C>T, NM_001284255.1:c.108C>G, NM_001284256.2:c.108C>T, NM_001284256.2:c.108C>G, NM_001284256.1:c.108C>T, NM_001284256.1:c.108C>G, NM_001284257.2:c.108C>T, NM_001284257.2:c.108C>G, NM_001284257.1:c.108C>T, NM_001284257.1:c.108C>G

Select item 141812416710.

rs1418124167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24543090 (GRCh38)
22:24939058 (GRCh37)
Canonical SPDI:: NC_000022.11:24543089:G:A
Gene:: GUCD1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24543090G>A, NC_000022.10:g.24939058G>A, NM_031444.4:c.639C>T, NM_031444.3:c.639C>T, NM_031444.2:c.639C>T, XM_005261761.3:c.565C>T, XM_005261761.2:c.565C>T, XM_005261761.1:c.565C>T, NM_001284251.2:c.807C>T, NM_001284251.1:c.807C>T, NM_001284252.2:c.804C>T, NM_001284252.1:c.804C>T, NM_001284254.2:c.636C>T, NM_001284254.1:c.636C>T, NM_001284253.2:c.675C>T, NM_001284253.1:c.675C>T, NM_001284255.2:c.507C>T, NM_001284255.1:c.507C>T, NR_104286.2:n.549C>T, NR_104286.1:n.590C>T, NM_001284256.2:c.397C>T, NM_001284256.1:c.397C>T, NM_001284257.2:c.394C>T, NM_001284257.1:c.394C>T, XP_005261818.1:p.Gln189Ter, NP_001271185.1:p.Gln133Ter, NP_001271186.1:p.Gln132Ter

Select item 141720253811.

rs1417202538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:24546980 (GRCh38)
22:24942948 (GRCh37)
Canonical SPDI:: NC_000022.11:24546979:G:A,NC_000022.11:24546979:G:C
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24546980G>A, NC_000022.11:g.24546980G>C, NC_000022.10:g.24942948G>A, NC_000022.10:g.24942948G>C, NM_031444.4:c.320C>T, NM_031444.4:c.320C>G, NM_031444.3:c.320C>T, NM_031444.3:c.320C>G, NM_031444.2:c.320C>T, NM_031444.2:c.320C>G, XM_005261761.3:c.488C>T, XM_005261761.3:c.488C>G, XM_005261761.2:c.488C>T, XM_005261761.2:c.488C>G, XM_005261761.1:c.488C>T, XM_005261761.1:c.488C>G, NM_001284251.2:c.488C>T, NM_001284251.2:c.488C>G, NM_001284251.1:c.488C>T, NM_001284251.1:c.488C>G, NM_001284252.2:c.488C>T, NM_001284252.2:c.488C>G, NM_001284252.1:c.488C>T, NM_001284252.1:c.488C>G, NM_001284254.2:c.320C>T, NM_001284254.2:c.320C>G, NM_001284254.1:c.320C>T, NM_001284254.1:c.320C>G, NM_001284253.2:c.488C>T, NM_001284253.2:c.488C>G, NM_001284253.1:c.488C>T, NM_001284253.1:c.488C>G, NM_001284255.2:c.320C>T, NM_001284255.2:c.320C>G, NM_001284255.1:c.320C>T, NM_001284255.1:c.320C>G, NR_104286.2:n.472C>T, NR_104286.2:n.472C>G, NR_104286.1:n.513C>T, NR_104286.1:n.513C>G, NM_001284256.2:c.320C>T, NM_001284256.2:c.320C>G, NM_001284256.1:c.320C>T, NM_001284256.1:c.320C>G, NM_001284257.2:c.320C>T, NM_001284257.2:c.320C>G, NM_001284257.1:c.320C>T, NM_001284257.1:c.320C>G, NP_113632.2:p.Thr107Ile, NP_113632.2:p.Thr107Arg, XP_005261818.1:p.Thr163Ile, XP_005261818.1:p.Thr163Arg, NP_001271180.1:p.Thr163Ile, NP_001271180.1:p.Thr163Arg, NP_001271181.1:p.Thr163Ile, NP_001271181.1:p.Thr163Arg, NP_001271183.1:p.Thr107Ile, NP_001271183.1:p.Thr107Arg, NP_001271182.1:p.Thr163Ile, NP_001271182.1:p.Thr163Arg, NP_001271184.1:p.Thr107Ile, NP_001271184.1:p.Thr107Arg, NP_001271185.1:p.Thr107Ile, NP_001271185.1:p.Thr107Arg, NP_001271186.1:p.Thr107Ile, NP_001271186.1:p.Thr107Arg

Select item 141325226012.

rs1413252260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24547995 (GRCh38)
22:24943963 (GRCh37)
Canonical SPDI:: NC_000022.11:24547994:G:A
Gene:: GUCD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000022.11:g.24547995G>A, NC_000022.10:g.24943963G>A, NM_031444.4:c.207C>T, NM_031444.3:c.207C>T, NM_031444.2:c.207C>T, XM_005261761.3:c.375C>T, XM_005261761.2:c.375C>T, XM_005261761.1:c.375C>T, NM_001284251.2:c.375C>T, NM_001284251.1:c.375C>T, NM_001284252.2:c.375C>T, NM_001284252.1:c.375C>T, NM_001284254.2:c.207C>T, NM_001284254.1:c.207C>T, NM_001284253.2:c.375C>T, NM_001284253.1:c.375C>T, NM_001284255.2:c.207C>T, NM_001284255.1:c.207C>T, NR_104286.2:n.359C>T, NR_104286.1:n.400C>T, NM_001284256.2:c.207C>T, NM_001284256.1:c.207C>T, NM_001284257.2:c.207C>T, NM_001284257.1:c.207C>T

Select item 140692084713.

rs1406920847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:24547919 (GRCh38)
22:24943887 (GRCh37)
Canonical SPDI:: NC_000022.11:24547918:A:G,NC_000022.11:24547918:A:T
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.24547919A>G, NC_000022.11:g.24547919A>T, NC_000022.10:g.24943887A>G, NC_000022.10:g.24943887A>T, NM_031444.4:c.283T>C, NM_031444.4:c.283T>A, NM_031444.3:c.283T>C, NM_031444.3:c.283T>A, NM_031444.2:c.283T>C, NM_031444.2:c.283T>A, XM_005261761.3:c.451T>C, XM_005261761.3:c.451T>A, XM_005261761.2:c.451T>C, XM_005261761.2:c.451T>A, XM_005261761.1:c.451T>C, XM_005261761.1:c.451T>A, NM_001284251.2:c.451T>C, NM_001284251.2:c.451T>A, NM_001284251.1:c.451T>C, NM_001284251.1:c.451T>A, NM_001284252.2:c.451T>C, NM_001284252.2:c.451T>A, NM_001284252.1:c.451T>C, NM_001284252.1:c.451T>A, NM_001284254.2:c.283T>C, NM_001284254.2:c.283T>A, NM_001284254.1:c.283T>C, NM_001284254.1:c.283T>A, NM_001284253.2:c.451T>C, NM_001284253.2:c.451T>A, NM_001284253.1:c.451T>C, NM_001284253.1:c.451T>A, NM_001284255.2:c.283T>C, NM_001284255.2:c.283T>A, NM_001284255.1:c.283T>C, NM_001284255.1:c.283T>A, NR_104286.2:n.435T>C, NR_104286.2:n.435T>A, NR_104286.1:n.476T>C, NR_104286.1:n.476T>A, NM_001284256.2:c.283T>C, NM_001284256.2:c.283T>A, NM_001284256.1:c.283T>C, NM_001284256.1:c.283T>A, NM_001284257.2:c.283T>C, NM_001284257.2:c.283T>A, NM_001284257.1:c.283T>C, NM_001284257.1:c.283T>A, NP_113632.2:p.Tyr95His, NP_113632.2:p.Tyr95Asn, XP_005261818.1:p.Tyr151His, XP_005261818.1:p.Tyr151Asn, NP_001271180.1:p.Tyr151His, NP_001271180.1:p.Tyr151Asn, NP_001271181.1:p.Tyr151His, NP_001271181.1:p.Tyr151Asn, NP_001271183.1:p.Tyr95His, NP_001271183.1:p.Tyr95Asn, NP_001271182.1:p.Tyr151His, NP_001271182.1:p.Tyr151Asn, NP_001271184.1:p.Tyr95His, NP_001271184.1:p.Tyr95Asn, NP_001271185.1:p.Tyr95His, NP_001271185.1:p.Tyr95Asn, NP_001271186.1:p.Tyr95His, NP_001271186.1:p.Tyr95Asn

Select item 140687620714.

rs1406876207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24546988 (GRCh38)
22:24942956 (GRCh37)
Canonical SPDI:: NC_000022.11:24546987:G:A
Gene:: GUCD1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24546988G>A, NC_000022.10:g.24942956G>A, NM_031444.4:c.312C>T, NM_031444.3:c.312C>T, NM_031444.2:c.312C>T, XM_005261761.3:c.480C>T, XM_005261761.2:c.480C>T, XM_005261761.1:c.480C>T, NM_001284251.2:c.480C>T, NM_001284251.1:c.480C>T, NM_001284252.2:c.480C>T, NM_001284252.1:c.480C>T, NM_001284254.2:c.312C>T, NM_001284254.1:c.312C>T, NM_001284253.2:c.480C>T, NM_001284253.1:c.480C>T, NM_001284255.2:c.312C>T, NM_001284255.1:c.312C>T, NR_104286.2:n.464C>T, NR_104286.1:n.505C>T, NM_001284256.2:c.312C>T, NM_001284256.1:c.312C>T, NM_001284257.2:c.312C>T, NM_001284257.1:c.312C>T

Select item 139357231515.

rs1393572315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 22:24547001 (GRCh38)
22:24942969 (GRCh37)
Canonical SPDI:: NC_000022.11:24546998:AGAAG:AG
Gene:: GUCD1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000051/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24547001_24547003del, NC_000022.10:g.24942969_24942971del, NM_031444.4:c.299_301del, NM_031444.3:c.299_301del, NM_031444.2:c.299_301del, XM_005261761.3:c.467_469del, XM_005261761.2:c.467_469del, XM_005261761.1:c.467_469del, NM_001284251.2:c.467_469del, NM_001284251.1:c.467_469del, NM_001284252.2:c.467_469del, NM_001284252.1:c.467_469del, NM_001284254.2:c.299_301del, NM_001284254.1:c.299_301del, NM_001284253.2:c.467_469del, NM_001284253.1:c.467_469del, NM_001284255.2:c.299_301del, NM_001284255.1:c.299_301del, NR_104286.2:n.451_453del, NR_104286.1:n.492_494del, NM_001284256.2:c.299_301del, NM_001284256.1:c.299_301del, NM_001284257.2:c.299_301del, NM_001284257.1:c.299_301del, NP_113632.2:p.Phe100del, XP_005261818.1:p.Phe156del, NP_001271180.1:p.Phe156del, NP_001271181.1:p.Phe156del, NP_001271183.1:p.Phe100del, NP_001271182.1:p.Phe156del, NP_001271184.1:p.Phe100del, NP_001271185.1:p.Phe100del, NP_001271186.1:p.Phe100del

Select item 139281754416.

rs1392817544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24548065 (GRCh38)
22:24944033 (GRCh37)
Canonical SPDI:: NC_000022.11:24548064:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000022.11:g.24548065C>T, NC_000022.10:g.24944033C>T, NM_031444.4:c.137G>A, NM_031444.3:c.137G>A, NM_031444.2:c.137G>A, XM_005261761.3:c.305G>A, XM_005261761.2:c.305G>A, XM_005261761.1:c.305G>A, NM_001284251.2:c.305G>A, NM_001284251.1:c.305G>A, NM_001284252.2:c.305G>A, NM_001284252.1:c.305G>A, NM_001284254.2:c.137G>A, NM_001284254.1:c.137G>A, NM_001284253.2:c.305G>A, NM_001284253.1:c.305G>A, NM_001284255.2:c.137G>A, NM_001284255.1:c.137G>A, NR_104286.2:n.289G>A, NR_104286.1:n.330G>A, NM_001284256.2:c.137G>A, NM_001284256.1:c.137G>A, NM_001284257.2:c.137G>A, NM_001284257.1:c.137G>A, NP_113632.2:p.Gly46Asp, XP_005261818.1:p.Gly102Asp, NP_001271180.1:p.Gly102Asp, NP_001271181.1:p.Gly102Asp, NP_001271183.1:p.Gly46Asp, NP_001271182.1:p.Gly102Asp, NP_001271184.1:p.Gly46Asp, NP_001271185.1:p.Gly46Asp, NP_001271186.1:p.Gly46Asp

Select item 138921290117.

rs1389212901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24543085 (GRCh38)
22:24939053 (GRCh37)
Canonical SPDI:: NC_000022.11:24543084:G:A
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24543085G>A, NC_000022.10:g.24939053G>A, NM_031444.4:c.644C>T, NM_031444.3:c.644C>T, NM_031444.2:c.644C>T, XM_005261761.3:c.570C>T, XM_005261761.2:c.570C>T, XM_005261761.1:c.570C>T, NM_001284251.2:c.812C>T, NM_001284251.1:c.812C>T, NM_001284252.2:c.809C>T, NM_001284252.1:c.809C>T, NM_001284254.2:c.641C>T, NM_001284254.1:c.641C>T, NM_001284253.2:c.680C>T, NM_001284253.1:c.680C>T, NM_001284255.2:c.512C>T, NM_001284255.1:c.512C>T, NR_104286.2:n.554C>T, NR_104286.1:n.595C>T, NM_001284256.2:c.402C>T, NM_001284256.1:c.402C>T, NM_001284257.2:c.399C>T, NM_001284257.1:c.399C>T, NP_113632.2:p.Thr215Ile, NP_001271180.1:p.Thr271Ile, NP_001271181.1:p.Thr270Ile, NP_001271183.1:p.Thr214Ile, NP_001271182.1:p.Thr227Ile, NP_001271184.1:p.Thr171Ile

Select item 138446960118.

rs1384469601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:24548981 (GRCh38)
22:24944949 (GRCh37)
Canonical SPDI:: NC_000022.11:24548980:C:A
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.24548981C>A, NC_000022.10:g.24944949C>A, NM_031444.4:c.64G>T, NM_031444.3:c.64G>T, NM_031444.2:c.64G>T, XM_005261761.3:c.232G>T, XM_005261761.2:c.232G>T, XM_005261761.1:c.232G>T, NM_001284251.2:c.232G>T, NM_001284251.1:c.232G>T, NM_001284252.2:c.232G>T, NM_001284252.1:c.232G>T, NM_001284254.2:c.64G>T, NM_001284254.1:c.64G>T, NM_001284253.2:c.232G>T, NM_001284253.1:c.232G>T, NM_001284255.2:c.64G>T, NM_001284255.1:c.64G>T, NM_001284256.2:c.64G>T, NM_001284256.1:c.64G>T, NM_001284257.2:c.64G>T, NM_001284257.1:c.64G>T, NP_113632.2:p.Val22Leu, XP_005261818.1:p.Val78Leu, NP_001271180.1:p.Val78Leu, NP_001271181.1:p.Val78Leu, NP_001271183.1:p.Val22Leu, NP_001271182.1:p.Val78Leu, NP_001271184.1:p.Val22Leu, NP_001271185.1:p.Val22Leu, NP_001271186.1:p.Val22Leu

Select item 138034627119.

rs1380346271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:24548993 (GRCh38)
22:24944961 (GRCh37)
Canonical SPDI:: NC_000022.11:24548992:C:G
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24548993C>G, NC_000022.10:g.24944961C>G, NM_031444.4:c.52G>C, NM_031444.3:c.52G>C, NM_031444.2:c.52G>C, XM_005261761.3:c.220G>C, XM_005261761.2:c.220G>C, XM_005261761.1:c.220G>C, NM_001284251.2:c.220G>C, NM_001284251.1:c.220G>C, NM_001284252.2:c.220G>C, NM_001284252.1:c.220G>C, NM_001284254.2:c.52G>C, NM_001284254.1:c.52G>C, NM_001284253.2:c.220G>C, NM_001284253.1:c.220G>C, NM_001284255.2:c.52G>C, NM_001284255.1:c.52G>C, NM_001284256.2:c.52G>C, NM_001284256.1:c.52G>C, NM_001284257.2:c.52G>C, NM_001284257.1:c.52G>C, NP_113632.2:p.Val18Leu, XP_005261818.1:p.Val74Leu, NP_001271180.1:p.Val74Leu, NP_001271181.1:p.Val74Leu, NP_001271183.1:p.Val18Leu, NP_001271182.1:p.Val74Leu, NP_001271184.1:p.Val18Leu, NP_001271185.1:p.Val18Leu, NP_001271186.1:p.Val18Leu

Select item 135583007120.

rs1355830071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24549001 (GRCh38)
22:24944969 (GRCh37)
Canonical SPDI:: NC_000022.11:24549000:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24549001C>T, NC_000022.10:g.24944969C>T, NM_031444.4:c.44G>A, NM_031444.3:c.44G>A, NM_031444.2:c.44G>A, XM_005261761.3:c.212G>A, XM_005261761.2:c.212G>A, XM_005261761.1:c.212G>A, NM_001284251.2:c.212G>A, NM_001284251.1:c.212G>A, NM_001284252.2:c.212G>A, NM_001284252.1:c.212G>A, NM_001284254.2:c.44G>A, NM_001284254.1:c.44G>A, NM_001284253.2:c.212G>A, NM_001284253.1:c.212G>A, NM_001284255.2:c.44G>A, NM_001284255.1:c.44G>A, NM_001284256.2:c.44G>A, NM_001284256.1:c.44G>A, NM_001284257.2:c.44G>A, NM_001284257.1:c.44G>A, NP_113632.2:p.Gly15Glu, XP_005261818.1:p.Gly71Glu, NP_001271180.1:p.Gly71Glu, NP_001271181.1:p.Gly71Glu, NP_001271183.1:p.Gly15Glu, NP_001271182.1:p.Gly71Glu, NP_001271184.1:p.Gly15Glu, NP_001271185.1:p.Gly15Glu, NP_001271186.1:p.Gly15Glu

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