SNP Links for Protein (Select 632794837) - SNP

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Links from Protein

Items: 1 to 20 of 34

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Select item 14341193881.

rs1434119388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21629107 (GRCh38)
18:19209068 (GRCh37)
Canonical SPDI:: NC_000018.10:21629106:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629107G>A, NC_000018.9:g.19209068G>A, NM_006938.4:c.329G>A, NM_006938.3:c.329G>A, NM_006938.2:c.329G>A, NM_001291916.2:c.206G>A, NM_001291916.1:c.206G>A, NP_008869.1:p.Arg110His, NP_001278845.1:p.Arg69His

Select item 14083563082.

rs1408356308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21629099 (GRCh38)
18:19209060 (GRCh37)
Canonical SPDI:: NC_000018.10:21629098:A:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000018.10:g.21629099A>G, NC_000018.9:g.19209060A>G, NM_006938.4:c.321A>G, NM_006938.3:c.321A>G, NM_006938.2:c.321A>G, NM_001291916.2:c.198A>G, NM_001291916.1:c.198A>G

Select item 13789169153.

rs1378916915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:21623904 (GRCh38)
18:19203865 (GRCh37)
Canonical SPDI:: NC_000018.10:21623903:T:C,NC_000018.10:21623903:T:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.21623904T>C, NC_000018.10:g.21623904T>G, NC_000018.9:g.19203865T>C, NC_000018.9:g.19203865T>G, NM_006938.4:c.248T>C, NM_006938.4:c.248T>G, NM_006938.3:c.248T>C, NM_006938.3:c.248T>G, NM_006938.2:c.248T>C, NM_006938.2:c.248T>G, NM_001291916.2:c.125T>C, NM_001291916.2:c.125T>G, NM_001291916.1:c.125T>C, NM_001291916.1:c.125T>G, NP_008869.1:p.Val83Ala, NP_008869.1:p.Val83Gly, NP_001278845.1:p.Val42Ala, NP_001278845.1:p.Val42Gly

Select item 13763196224.

rs1376319622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:21629068 (GRCh38)
18:19209029 (GRCh37)
Canonical SPDI:: NC_000018.10:21629067:G:C
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000018.10:g.21629068G>C, NC_000018.9:g.19209029G>C, NM_006938.4:c.290G>C, NM_006938.3:c.290G>C, NM_006938.2:c.290G>C, NM_001291916.2:c.167G>C, NM_001291916.1:c.167G>C, NP_008869.1:p.Gly97Ala, NP_001278845.1:p.Gly56Ala

Select item 13531208265.

rs1353120826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:21629132 (GRCh38)
18:19209093 (GRCh37)
Canonical SPDI:: NC_000018.10:21629131:G:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629132G>T, NC_000018.9:g.19209093G>T, NM_006938.4:c.354G>T, NM_006938.3:c.354G>T, NM_006938.2:c.354G>T, NM_001291916.2:c.231G>T, NM_001291916.1:c.231G>T, NP_008869.1:p.Arg118Ser, NP_001278845.1:p.Arg77Ser

Select item 13498754666.

rs1349875466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:21622788 (GRCh38)
18:19202749 (GRCh37)
Canonical SPDI:: NC_000018.10:21622787:T:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21622788T>G, NC_000018.9:g.19202749T>G, NM_006938.4:c.78T>G, NM_006938.3:c.78T>G, NM_006938.2:c.78T>G, NM_001291916.2:c.78T>G, NM_001291916.1:c.78T>G, NP_008869.1:p.His26Gln, NP_001278845.1:p.His26Gln

Select item 13488048147.

rs1348804814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21629123 (GRCh38)
18:19209084 (GRCh37)
Canonical SPDI:: NC_000018.10:21629122:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629123G>A, NC_000018.9:g.19209084G>A, NM_006938.4:c.345G>A, NM_006938.3:c.345G>A, NM_006938.2:c.345G>A, NM_001291916.2:c.222G>A, NM_001291916.1:c.222G>A

Select item 13279678208.

rs1327967820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21629096 (GRCh38)
18:19209057 (GRCh37)
Canonical SPDI:: NC_000018.10:21629095:A:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629096A>G, NC_000018.9:g.19209057A>G, NM_006938.4:c.318A>G, NM_006938.3:c.318A>G, NM_006938.2:c.318A>G, NM_001291916.2:c.195A>G, NM_001291916.1:c.195A>G

Select item 13103118099.

rs1310311809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:21623913 (GRCh38)
18:19203874 (GRCh37)
Canonical SPDI:: NC_000018.10:21623912:A:C
Gene:: SNRPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.21623913A>C, NC_000018.9:g.19203874A>C, NM_006938.4:c.257A>C, NM_006938.3:c.257A>C, NM_006938.2:c.257A>C, NM_001291916.2:c.134A>C, NM_001291916.1:c.134A>C, NP_008869.1:p.Lys86Thr, NP_001278845.1:p.Lys45Thr

Select item 130850242010.

rs1308502420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21623891 (GRCh38)
18:19203852 (GRCh37)
Canonical SPDI:: NC_000018.10:21623890:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21623891C>T, NC_000018.9:g.19203852C>T, NM_006938.4:c.235C>T, NM_006938.3:c.235C>T, NM_006938.2:c.235C>T, NM_001291916.2:c.112C>T, NM_001291916.1:c.112C>T

Select item 127403574811.

rs1274035748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:21629108 (GRCh38)
18:19209069 (GRCh37)
Canonical SPDI:: NC_000018.10:21629107:T:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000018.10:g.21629108T>G, NC_000018.9:g.19209069T>G, NM_006938.4:c.330T>G, NM_006938.3:c.330T>G, NM_006938.2:c.330T>G, NM_001291916.2:c.207T>G, NM_001291916.1:c.207T>G

Select item 123680316512.

rs1236803165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21629125 (GRCh38)
18:19209086 (GRCh37)
Canonical SPDI:: NC_000018.10:21629124:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629125G>A, NC_000018.9:g.19209086G>A, NM_006938.4:c.347G>A, NM_006938.3:c.347G>A, NM_006938.2:c.347G>A, NM_001291916.2:c.224G>A, NM_001291916.1:c.224G>A, NP_008869.1:p.Gly116Asp, NP_001278845.1:p.Gly75Asp

Select item 120621261713.

rs1206212617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:21629134 (GRCh38)
18:19209095 (GRCh37)
Canonical SPDI:: NC_000018.10:21629133:G:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21629134G>T, NC_000018.9:g.19209095G>T, NM_006938.4:c.356G>T, NM_006938.3:c.356G>T, NM_006938.2:c.356G>T, NM_001291916.2:c.233G>T, NM_001291916.1:c.233G>T, NP_008869.1:p.Arg119Leu, NP_001278845.1:p.Arg78Leu

Select item 118824211514.

rs1188242115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:21612441 (GRCh38)
18:19192402 (GRCh37)
Canonical SPDI:: NC_000018.10:21612440:G:C
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000018.10:g.21612441G>C, NC_000018.9:g.19192402G>C, NM_006938.4:c.12G>C, NM_006938.3:c.12G>C, NM_006938.2:c.12G>C, NM_001291916.2:c.12G>C, NM_001291916.1:c.12G>C

Select item 116327474415.

rs1163274744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21622787 (GRCh38)
18:19202748 (GRCh37)
Canonical SPDI:: NC_000018.10:21622786:A:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21622787A>G, NC_000018.9:g.19202748A>G, NM_006938.4:c.77A>G, NM_006938.3:c.77A>G, NM_006938.2:c.77A>G, NM_001291916.2:c.77A>G, NM_001291916.1:c.77A>G, NP_008869.1:p.His26Arg, NP_001278845.1:p.His26Arg

Select item 103581274516.

rs1035812745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21622725 (GRCh38)
18:19202686 (GRCh37)
Canonical SPDI:: NC_000018.10:21622724:A:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000049/13 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000018.10:g.21622725A>G, NC_000018.9:g.19202686A>G, NM_006938.4:c.15A>G, NM_006938.3:c.15A>G, NM_006938.2:c.15A>G, NM_001291916.2:c.15A>G, NM_001291916.1:c.15A>G

Select item 100139928017.

rs1001399280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21622753 (GRCh38)
18:19202714 (GRCh37)
Canonical SPDI:: NC_000018.10:21622752:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.21622753G>A, NC_000018.9:g.19202714G>A, NM_006938.4:c.43G>A, NM_006938.3:c.43G>A, NM_006938.2:c.43G>A, NM_001291916.2:c.43G>A, NM_001291916.1:c.43G>A, NP_008869.1:p.Val15Ile, NP_001278845.1:p.Val15Ile

Select item 96052560918.

rs960525609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21622785 (GRCh38)
18:19202746 (GRCh37)
Canonical SPDI:: NC_000018.10:21622784:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.21622785C>T, NC_000018.9:g.19202746C>T, NM_006938.4:c.75C>T, NM_006938.3:c.75C>T, NM_006938.2:c.75C>T, NM_001291916.2:c.75C>T, NM_001291916.1:c.75C>T

Select item 86670702119.

rs866707021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:21629064 (GRCh38)
18:19209025 (GRCh37)
Canonical SPDI:: NC_000018.10:21629063:G:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (PAGE_STUDY)
HGVS:: NC_000018.10:g.21629064G>T, NC_000018.9:g.19209025G>T, NM_006938.4:c.286G>T, NM_006938.3:c.286G>T, NM_006938.2:c.286G>T, NM_001291916.2:c.163G>T, NM_001291916.1:c.163G>T, NP_008869.1:p.Ala96Ser, NP_001278845.1:p.Ala55Ser

Select item 77851263420.

rs778512634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21622774 (GRCh38)
18:19202735 (GRCh37)
Canonical SPDI:: NC_000018.10:21622773:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/1 (ExAC)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21622774G>A, NC_000018.9:g.19202735G>A, NM_006938.4:c.64G>A, NM_006938.3:c.64G>A, NM_006938.2:c.64G>A, NM_001291916.2:c.64G>A, NM_001291916.1:c.64G>A, NP_008869.1:p.Gly22Arg, NP_001278845.1:p.Gly22Arg

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