SNP Links for Protein (Select 545746397) - SNP

Select item 14895870891.

rs1489587089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:24555783 (GRCh38)
22:24951751 (GRCh37)
Canonical SPDI:: NC_000022.11:24555782:G:A,NC_000022.11:24555782:G:C,NC_000022.11:24555782:G:T
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.24555783G>A, NC_000022.11:g.24555783G>C, NC_000022.11:g.24555783G>T, NC_000022.10:g.24951751G>A, NC_000022.10:g.24951751G>C, NC_000022.10:g.24951751G>T, NM_004175.4:c.-307G>A, NM_004175.4:c.-307G>C, NM_004175.4:c.-307G>T, XM_005261761.3:c.43C>T, XM_005261761.3:c.43C>G, XM_005261761.3:c.43C>A, XM_005261761.2:c.43C>T, XM_005261761.2:c.43C>G, XM_005261761.2:c.43C>A, XM_005261761.1:c.43C>T, XM_005261761.1:c.43C>G, XM_005261761.1:c.43C>A, NM_001284251.2:c.43C>T, NM_001284251.2:c.43C>G, NM_001284251.2:c.43C>A, NM_001284251.1:c.43C>T, NM_001284251.1:c.43C>G, NM_001284251.1:c.43C>A, NM_001284252.2:c.43C>T, NM_001284252.2:c.43C>G, NM_001284252.2:c.43C>A, NM_001284252.1:c.43C>T, NM_001284252.1:c.43C>G, NM_001284252.1:c.43C>A, NM_001284253.2:c.43C>T, NM_001284253.2:c.43C>G, NM_001284253.2:c.43C>A, NM_001284253.1:c.43C>T, NM_001284253.1:c.43C>G, NM_001284253.1:c.43C>A, NR_104286.2:n.112C>T, NR_104286.2:n.112C>G, NR_104286.2:n.112C>A, NR_104286.1:n.153C>T, NR_104286.1:n.153C>G, NR_104286.1:n.153C>A, NM_001278656.1:c.-293G>A, NM_001278656.1:c.-293G>C, NM_001278656.1:c.-293G>T, NR_103819.1:n.134G>A, NR_103819.1:n.134G>C, NR_103819.1:n.134G>T, XP_005261818.1:p.Gln15Ter, XP_005261818.1:p.Gln15Glu, XP_005261818.1:p.Gln15Lys, NP_001271180.1:p.Gln15Ter, NP_001271180.1:p.Gln15Glu, NP_001271180.1:p.Gln15Lys, NP_001271181.1:p.Gln15Ter, NP_001271181.1:p.Gln15Glu, NP_001271181.1:p.Gln15Lys, NP_001271182.1:p.Gln15Ter, NP_001271182.1:p.Gln15Glu, NP_001271182.1:p.Gln15Lys

Select item 14865276072.

rs1486527607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24555645 (GRCh38)
22:24951613 (GRCh37)
Canonical SPDI:: NC_000022.11:24555644:G:A
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24555645G>A, NC_000022.10:g.24951613G>A, XM_005261761.3:c.181C>T, XM_005261761.2:c.181C>T, XM_005261761.1:c.181C>T, NM_001284251.2:c.181C>T, NM_001284251.1:c.181C>T, NM_001284252.2:c.181C>T, NM_001284252.1:c.181C>T, NM_001284253.2:c.181C>T, NM_001284253.1:c.181C>T, NR_104286.2:n.250C>T, NR_104286.1:n.291C>T, XP_005261818.1:p.Gln61Ter, NP_001271180.1:p.Gln61Ter, NP_001271181.1:p.Gln61Ter, NP_001271182.1:p.Gln61Ter

Select item 14845993923.

rs1484599392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:24544019 (GRCh38)
22:24939987 (GRCh37)
Canonical SPDI:: NC_000022.11:24544018:T:C
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24544019T>C, NC_000022.10:g.24939987T>C, NM_031444.4:c.451A>G, NM_031444.3:c.451A>G, NM_031444.2:c.451A>G, NM_001284251.2:c.619A>G, NM_001284251.1:c.619A>G, NM_001284252.2:c.619A>G, NM_001284252.1:c.619A>G, NM_001284254.2:c.451A>G, NM_001284254.1:c.451A>G, NP_113632.2:p.Asn151Asp, NP_001271180.1:p.Asn207Asp, NP_001271181.1:p.Asn207Asp, NP_001271183.1:p.Asn151Asp

Select item 14799557244.

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 14780754015.

rs1478075401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:24543856 (GRCh38)
22:24939824 (GRCh37)
Canonical SPDI:: NC_000022.11:24543855:G:A,NC_000022.11:24543855:G:T
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24543856G>A, NC_000022.11:g.24543856G>T, NC_000022.10:g.24939824G>A, NC_000022.10:g.24939824G>T, NM_031444.4:c.614C>T, NM_031444.4:c.614C>A, NM_031444.3:c.614C>T, NM_031444.3:c.614C>A, NM_031444.2:c.614C>T, NM_031444.2:c.614C>A, NM_001284251.2:c.782C>T, NM_001284251.2:c.782C>A, NM_001284251.1:c.782C>T, NM_001284251.1:c.782C>A, NM_001284252.2:c.782C>T, NM_001284252.2:c.782C>A, NM_001284252.1:c.782C>T, NM_001284252.1:c.782C>A, NM_001284254.2:c.614C>T, NM_001284254.2:c.614C>A, NM_001284254.1:c.614C>T, NM_001284254.1:c.614C>A, NM_001284253.2:c.653C>T, NM_001284253.2:c.653C>A, NM_001284253.1:c.653C>T, NM_001284253.1:c.653C>A, NM_001284255.2:c.485C>T, NM_001284255.2:c.485C>A, NM_001284255.1:c.485C>T, NM_001284255.1:c.485C>A, NP_113632.2:p.Pro205Leu, NP_113632.2:p.Pro205Gln, NP_001271180.1:p.Pro261Leu, NP_001271180.1:p.Pro261Gln, NP_001271181.1:p.Pro261Leu, NP_001271181.1:p.Pro261Gln, NP_001271183.1:p.Pro205Leu, NP_001271183.1:p.Pro205Gln, NP_001271182.1:p.Pro218Leu, NP_001271182.1:p.Pro218Gln, NP_001271184.1:p.Pro162Leu, NP_001271184.1:p.Pro162Gln

Select item 14715387756.

rs1471538775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:24555663 (GRCh38)
22:24951631 (GRCh37)
Canonical SPDI:: NC_000022.11:24555662:C:G,NC_000022.11:24555662:C:T
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.24555663C>G, NC_000022.11:g.24555663C>T, NC_000022.10:g.24951631C>G, NC_000022.10:g.24951631C>T, NM_004175.4:c.-427C>G, NM_004175.4:c.-427C>T, XM_005261761.3:c.163G>C, XM_005261761.3:c.163G>A, XM_005261761.2:c.163G>C, XM_005261761.2:c.163G>A, XM_005261761.1:c.163G>C, XM_005261761.1:c.163G>A, NM_001284251.2:c.163G>C, NM_001284251.2:c.163G>A, NM_001284251.1:c.163G>C, NM_001284251.1:c.163G>A, NM_001284252.2:c.163G>C, NM_001284252.2:c.163G>A, NM_001284252.1:c.163G>C, NM_001284252.1:c.163G>A, NM_001284253.2:c.163G>C, NM_001284253.2:c.163G>A, NM_001284253.1:c.163G>C, NM_001284253.1:c.163G>A, NR_104286.2:n.232G>C, NR_104286.2:n.232G>A, NR_104286.1:n.273G>C, NR_104286.1:n.273G>A, NM_001278656.1:c.-413C>G, NM_001278656.1:c.-413C>T, NR_103819.1:n.14C>G, NR_103819.1:n.14C>T, XP_005261818.1:p.Gly55Arg, XP_005261818.1:p.Gly55Ser, NP_001271180.1:p.Gly55Arg, NP_001271180.1:p.Gly55Ser, NP_001271181.1:p.Gly55Arg, NP_001271181.1:p.Gly55Ser, NP_001271182.1:p.Gly55Arg, NP_001271182.1:p.Gly55Ser

Select item 14704066477.

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 14697753998.

rs1469775399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24543917 (GRCh38)
22:24939885 (GRCh37)
Canonical SPDI:: NC_000022.11:24543916:C:T
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24543917C>T, NC_000022.10:g.24939885C>T, NM_031444.4:c.553G>A, NM_031444.3:c.553G>A, NM_031444.2:c.553G>A, NM_001284251.2:c.721G>A, NM_001284251.1:c.721G>A, NM_001284252.2:c.721G>A, NM_001284252.1:c.721G>A, NM_001284254.2:c.553G>A, NM_001284254.1:c.553G>A, NM_001284253.2:c.592G>A, NM_001284253.1:c.592G>A, NM_001284255.2:c.424G>A, NM_001284255.1:c.424G>A, NP_113632.2:p.Gly185Ser, NP_001271180.1:p.Gly241Ser, NP_001271181.1:p.Gly241Ser, NP_001271183.1:p.Gly185Ser, NP_001271182.1:p.Gly198Ser, NP_001271184.1:p.Gly142Ser

Select item 14691184049.

rs1469118404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:24555761 (GRCh38)
22:24951729 (GRCh37)
Canonical SPDI:: NC_000022.11:24555760:T:C
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24555761T>C, NC_000022.10:g.24951729T>C, NM_004175.4:c.-329T>C, XM_005261761.3:c.65A>G, XM_005261761.2:c.65A>G, XM_005261761.1:c.65A>G, NM_001284251.2:c.65A>G, NM_001284251.1:c.65A>G, NM_001284252.2:c.65A>G, NM_001284252.1:c.65A>G, NM_001284253.2:c.65A>G, NM_001284253.1:c.65A>G, NR_104286.2:n.134A>G, NR_104286.1:n.175A>G, NM_001278656.1:c.-315T>C, NR_103819.1:n.112T>C, XP_005261818.1:p.His22Arg, NP_001271180.1:p.His22Arg, NP_001271181.1:p.His22Arg, NP_001271182.1:p.His22Arg

Select item 146180968010.

rs1461809680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:24543919 (GRCh38)
22:24939887 (GRCh37)
Canonical SPDI:: NC_000022.11:24543918:T:C
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24543919T>C, NC_000022.10:g.24939887T>C, NM_031444.4:c.551A>G, NM_031444.3:c.551A>G, NM_031444.2:c.551A>G, NM_001284251.2:c.719A>G, NM_001284251.1:c.719A>G, NM_001284252.2:c.719A>G, NM_001284252.1:c.719A>G, NM_001284254.2:c.551A>G, NM_001284254.1:c.551A>G, NM_001284253.2:c.590A>G, NM_001284253.1:c.590A>G, NM_001284255.2:c.422A>G, NM_001284255.1:c.422A>G, NP_113632.2:p.Gln184Arg, NP_001271180.1:p.Gln240Arg, NP_001271181.1:p.Gln240Arg, NP_001271183.1:p.Gln184Arg, NP_001271182.1:p.Gln197Arg, NP_001271184.1:p.Gln141Arg

Select item 146079705511.

rs1460797055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24543974 (GRCh38)
22:24939942 (GRCh37)
Canonical SPDI:: NC_000022.11:24543973:A:G
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_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.24543974A>G, NC_000022.10:g.24939942A>G, NM_031444.4:c.496T>C, NM_031444.3:c.496T>C, NM_031444.2:c.496T>C, NM_001284251.2:c.664T>C, NM_001284251.1:c.664T>C, NM_001284252.2:c.664T>C, NM_001284252.1:c.664T>C, NM_001284254.2:c.496T>C, NM_001284254.1:c.496T>C, NP_113632.2:p.Tyr166His, NP_001271180.1:p.Tyr222His, NP_001271181.1:p.Tyr222His, NP_001271183.1:p.Tyr166His

Select item 145432634712.

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 145431177313.

rs1454311773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24555651 (GRCh38)
22:24951619 (GRCh37)
Canonical SPDI:: NC_000022.11:24555650:G:A
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24555651G>A, NC_000022.10:g.24951619G>A, NM_004175.4:c.-439G>A, XM_005261761.3:c.175C>T, XM_005261761.2:c.175C>T, XM_005261761.1:c.175C>T, NM_001284251.2:c.175C>T, NM_001284251.1:c.175C>T, NM_001284252.2:c.175C>T, NM_001284252.1:c.175C>T, NM_001284253.2:c.175C>T, NM_001284253.1:c.175C>T, NR_104286.2:n.244C>T, NR_104286.1:n.285C>T, NM_001278656.1:c.-425G>A, NR_103819.1:n.2G>A, XP_005261818.1:p.Pro59Ser, NP_001271180.1:p.Pro59Ser, NP_001271181.1:p.Pro59Ser, NP_001271182.1:p.Pro59Ser

Select item 145207270114.

rs1452072701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24543902 (GRCh38)
22:24939870 (GRCh37)
Canonical SPDI:: NC_000022.11:24543901:G:A
Gene:: GUCD1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24543902G>A, NC_000022.10:g.24939870G>A, NM_031444.4:c.568C>T, NM_031444.3:c.568C>T, NM_031444.2:c.568C>T, NM_001284251.2:c.736C>T, NM_001284251.1:c.736C>T, NM_001284252.2:c.736C>T, NM_001284252.1:c.736C>T, NM_001284254.2:c.568C>T, NM_001284254.1:c.568C>T, NM_001284253.2:c.607C>T, NM_001284253.1:c.607C>T, NM_001284255.2:c.439C>T, NM_001284255.1:c.439C>T

Select item 145066851615.

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 144783837116.

rs1447838371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:24555636 (GRCh38)
22:24951604 (GRCh37)
Canonical SPDI:: NC_000022.11:24555635:A:C
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24555636A>C, NC_000022.10:g.24951604A>C, XM_005261761.3:c.190T>G, XM_005261761.2:c.190T>G, XM_005261761.1:c.190T>G, NM_001284251.2:c.190T>G, NM_001284251.1:c.190T>G, NM_001284252.2:c.190T>G, NM_001284252.1:c.190T>G, NM_001284253.2:c.190T>G, NM_001284253.1:c.190T>G, NR_104286.2:n.259T>G, NR_104286.1:n.300T>G, XP_005261818.1:p.Leu64Val, NP_001271180.1:p.Leu64Val, NP_001271181.1:p.Leu64Val, NP_001271182.1:p.Leu64Val

Select item 144610765717.

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 144273814218.

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 144067251519.

rs1440672515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:24555746 (GRCh38)
22:24951714 (GRCh37)
Canonical SPDI:: NC_000022.11:24555745:G:T
Gene:: SNRPD3 (Varview), GUCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24555746G>T, NC_000022.10:g.24951714G>T, NM_004175.4:c.-344G>T, XM_005261761.3:c.80C>A, XM_005261761.2:c.80C>A, XM_005261761.1:c.80C>A, NM_001284251.2:c.80C>A, NM_001284251.1:c.80C>A, NM_001284252.2:c.80C>A, NM_001284252.1:c.80C>A, NM_001284253.2:c.80C>A, NM_001284253.1:c.80C>A, NR_104286.2:n.149C>A, NR_104286.1:n.190C>A, NM_001278656.1:c.-330G>T, NR_103819.1:n.97G>T, XP_005261818.1:p.Pro27His, NP_001271180.1:p.Pro27His, NP_001271181.1:p.Pro27His, NP_001271182.1:p.Pro27His

Select item 143810809120.

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

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Result Filters

Validation Status

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Items: 1 to 20 of 297

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