SNP Links for Protein (Select 332309212) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201480028 (GRCh38)
2:202344751 (GRCh37)
Canonical SPDI:: NC_000002.12:201480027:A:G
Gene:: STRADB (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201480028A>G, NC_000002.11:g.202344751A>G, NG_029572.1:g.33360A>G, NM_001206864.2:c.1134A>G, NM_001206864.1:c.1134A>G

Select item 144189131915.

rs1441891319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:201469963 (GRCh38)
2:202334686 (GRCh37)
Canonical SPDI:: NC_000002.12:201469962:C:G
Gene:: STRADB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.201469963C>G, NC_000002.11:g.202334686C>G, NG_029572.1:g.23295C>G, NM_018571.6:c.104C>G, NM_018571.5:c.104C>G, NM_001206864.2:c.104C>G, NM_001206864.1:c.104C>G, XM_005246669.3:c.104C>G, XM_005246669.2:c.104C>G, XM_005246669.1:c.104C>G, NP_061041.2:p.Pro35Arg, NP_001193793.1:p.Pro35Arg, XP_005246726.1:p.Pro35Arg

Select item 143719344716.

rs1437193447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201458834 (GRCh38)
2:202323557 (GRCh37)
Canonical SPDI:: NC_000002.12:201458833:A:G
Gene:: STRADB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201458834A>G, NC_000002.11:g.202323557A>G, NG_029572.1:g.12166A>G, NM_018571.6:c.63A>G, NM_018571.5:c.63A>G, NM_001206864.2:c.63A>G, NM_001206864.1:c.63A>G, XM_005246669.3:c.63A>G, XM_005246669.2:c.63A>G, XM_005246669.1:c.63A>G

Select item 143530903917.

rs1435309039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:201474694 (GRCh38)
2:202339417 (GRCh37)
Canonical SPDI:: NC_000002.12:201474693:T:C,NC_000002.12:201474693:T:G
Gene:: STRADB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.201474694T>C, NC_000002.12:g.201474694T>G, NC_000002.11:g.202339417T>C, NC_000002.11:g.202339417T>G, NG_029572.1:g.28026T>C, NG_029572.1:g.28026T>G, NM_018571.6:c.363T>C, NM_018571.6:c.363T>G, NM_018571.5:c.363T>C, NM_018571.5:c.363T>G, NM_001206864.2:c.363T>C, NM_001206864.2:c.363T>G, NM_001206864.1:c.363T>C, NM_001206864.1:c.363T>G, XM_005246669.3:c.363T>C, XM_005246669.3:c.363T>G, XM_005246669.2:c.363T>C, XM_005246669.2:c.363T>G, XM_005246669.1:c.363T>C, XM_005246669.1:c.363T>G

Select item 143371669818.

rs1433716698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201478137 (GRCh38)
2:202342860 (GRCh37)
Canonical SPDI:: NC_000002.12:201478136:A:G
Gene:: STRADB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201478137A>G, NC_000002.11:g.202342860A>G, NG_029572.1:g.31469A>G, NM_018571.6:c.771A>G, NM_018571.5:c.771A>G, NM_001206864.2:c.771A>G, NM_001206864.1:c.771A>G, XM_005246669.3:c.771A>G, XM_005246669.2:c.771A>G, XM_005246669.1:c.771A>G

Select item 143310697919.

rs1433106979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:201473053 (GRCh38)
2:202337776 (GRCh37)
Canonical SPDI:: NC_000002.12:201473052:G:A
Gene:: STRADB (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)
HGVS:: NC_000002.12:g.201473053G>A, NC_000002.11:g.202337776G>A, NG_029572.1:g.26385G>A, NM_018571.6:c.292G>A, NM_018571.5:c.292G>A, NM_001206864.2:c.292G>A, NM_001206864.1:c.292G>A, XM_005246669.3:c.292G>A, XM_005246669.2:c.292G>A, XM_005246669.1:c.292G>A, NP_061041.2:p.Glu98Lys, NP_001193793.1:p.Glu98Lys, XP_005246726.1:p.Glu98Lys

Select item 143241771220.

rs1432417712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:201474661 (GRCh38)
2:202339384 (GRCh37)
Canonical SPDI:: NC_000002.12:201474660:A:C
Gene:: STRADB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.201474661A>C, NC_000002.11:g.202339384A>C, NG_029572.1:g.27993A>C, NM_018571.6:c.330A>C, NM_018571.5:c.330A>C, NM_001206864.2:c.330A>C, NM_001206864.1:c.330A>C, XM_005246669.3:c.330A>C, XM_005246669.2:c.330A>C, XM_005246669.1:c.330A>C

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