SNP Links for Protein (Select 768039189) - SNP

Select item 7827830041.

rs782783004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:135885177 (GRCh38)
X:134967329 (GRCh37)
Canonical SPDI:: NC_000023.11:135885176:C:A,NC_000023.11:135885176:C:G
Gene:: CT45A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (ExAC)
HGVS:: NC_000023.11:g.135885177C>A, NC_000023.11:g.135885177C>G, NW_004070887.1:g.816320C>A, NW_004070887.1:g.816320C>G, NC_000023.10:g.134967329C>A, NC_000023.10:g.134967329C>G, NM_001007551.3:c.168G>T, NM_001007551.3:c.168G>C, NM_001007551.6:c.168G>T, NM_001007551.6:c.168G>C, NM_001007551.5:c.168G>T, NM_001007551.5:c.168G>C, NM_001007551.4:c.168G>T, NM_001007551.4:c.168G>C, NM_001291530.2:c.168G>T, NM_001291530.2:c.168G>C, NM_001291530.1:c.168G>T, NM_001291530.1:c.168G>C, NM_001291529.2:c.168G>T, NM_001291529.2:c.168G>C, NM_001291529.1:c.168G>T, NM_001291529.1:c.168G>C, NM_001291527.2:c.168G>T, NM_001291527.2:c.168G>C, NM_001291527.1:c.168G>T, NM_001291527.1:c.168G>C, NM_001291528.2:c.168G>T, NM_001291528.2:c.168G>C, NM_001291528.1:c.168G>T, NM_001291528.1:c.168G>C, NM_001172288.1:c.168G>T, NM_001172288.1:c.168G>C, NM_001172288.2:c.168G>T, NM_001172288.2:c.168G>C, NM_001385219.1:c.168G>T, NM_001385219.1:c.168G>C, NM_001385220.1:c.168G>T, NM_001385220.1:c.168G>C, NP_001278459.1:p.Lys56Asn, NP_001278459.1:p.Lys56Asn, NP_001278458.1:p.Lys56Asn, NP_001278458.1:p.Lys56Asn, NP_001278456.1:p.Lys56Asn, NP_001278456.1:p.Lys56Asn, NP_001278457.1:p.Lys56Asn, NP_001278457.1:p.Lys56Asn, NP_001372148.1:p.Lys56Asn, NP_001372148.1:p.Lys56Asn, NP_001372149.1:p.Lys56Asn, NP_001372149.1:p.Lys56Asn

Select item 7827219182.

rs782721918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135885311 (GRCh38)
X:134967463 (GRCh37)
Canonical SPDI:: NC_000023.11:135885310:G:A
Gene:: CT45A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0052/24 (ALFA)
A=0.0056/5 (ExAC)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.135885311G>A, NW_004070887.1:g.816454G>A, NC_000023.10:g.134967463G>A, NM_001007551.3:c.34C>T, NM_001007551.6:c.34C>T, NM_001007551.5:c.34C>T, NM_001007551.4:c.34C>T, NM_001291530.2:c.34C>T, NM_001291530.1:c.34C>T, NM_001291529.2:c.34C>T, NM_001291529.1:c.34C>T, NM_001291527.2:c.34C>T, NM_001291527.1:c.34C>T, NM_001291528.2:c.34C>T, NM_001291528.1:c.34C>T, NM_001172288.1:c.34C>T, NM_001172288.2:c.34C>T, NM_001385219.1:c.34C>T, NM_001385220.1:c.34C>T, NP_001278459.1:p.Pro12Ser, NP_001278458.1:p.Pro12Ser, NP_001278456.1:p.Pro12Ser, NP_001278457.1:p.Pro12Ser, NP_001372148.1:p.Pro12Ser, NP_001372149.1:p.Pro12Ser

Select item 7826085633.

rs782608563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135885336 (GRCh38)
X:134967488 (GRCh37)
Canonical SPDI:: NC_000023.11:135885335:A:T
Gene:: CT45A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00047/2 (ALFA)
A=0./0 (SGDP_PRJ)
T=0.00238/9 (1000Genomes)
T=0.00282/72 (GnomAD_exomes)
T=0.00642/5 (ExAC)
HGVS:: NC_000023.11:g.135885336A>T, NW_004070887.1:g.816479A>T, NC_000023.10:g.134967488A>T, NM_001007551.3:c.9T>A, NM_001007551.6:c.9T>A, NM_001007551.5:c.9T>A, NM_001007551.4:c.9T>A, NM_001291530.2:c.9T>A, NM_001291530.1:c.9T>A, NM_001291529.2:c.9T>A, NM_001291529.1:c.9T>A, NM_001291527.2:c.9T>A, NM_001291527.1:c.9T>A, NM_001291528.2:c.9T>A, NM_001291528.1:c.9T>A, NM_001172288.1:c.9T>A, NM_001172288.2:c.9T>A, NM_001385219.1:c.9T>A, NM_001385220.1:c.9T>A, NP_001278459.1:p.Asp3Glu, NP_001278458.1:p.Asp3Glu, NP_001278456.1:p.Asp3Glu, NP_001278457.1:p.Asp3Glu, NP_001372148.1:p.Asp3Glu, NP_001372149.1:p.Asp3Glu

Select item 7824961784.

rs782496178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135885210 (GRCh38)
X:134967362 (GRCh37)
Canonical SPDI:: NC_000023.11:135885209:G:A
Gene:: CT45A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.0006/1 (ExAC)
HGVS:: NC_000023.11:g.135885210G>A, NW_004070887.1:g.816353G>A, NC_000023.10:g.134967362G>A, NM_001007551.3:c.135C>T, NM_001007551.6:c.135C>T, NM_001007551.5:c.135C>T, NM_001007551.4:c.135C>T, NM_001291530.2:c.135C>T, NM_001291530.1:c.135C>T, NM_001291529.2:c.135C>T, NM_001291529.1:c.135C>T, NM_001291527.2:c.135C>T, NM_001291527.1:c.135C>T, NM_001291528.2:c.135C>T, NM_001291528.1:c.135C>T, NM_001172288.1:c.135C>T, NM_001172288.2:c.135C>T, NM_001385219.1:c.135C>T, NM_001385220.1:c.135C>T

Select item 2012964905.

rs201296490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:135865939 (GRCh38)
X:134948121 (GRCh37)
Canonical SPDI:: NC_000023.11:135865938:T:A,NC_000023.11:135865938:T:C
Gene:: CT45A9 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000046/4 (ExAC)
C=0.000061/11 (GnomAD_exomes)
C=0.000265/1 (1000Genomes)
HGVS:: NC_000023.11:g.135865939T>A, NC_000023.11:g.135865939T>C, NW_004070887.1:g.797082T>A, NW_004070887.1:g.797082T>C, NC_000023.10:g.134948121T>A, NC_000023.10:g.134948121T>C, XM_006724796.3:c.204A>T, XM_006724796.3:c.204A>G, XM_006724796.2:c.204A>T, XM_006724796.2:c.204A>G, XM_006724796.1:c.204A>T, XM_006724796.1:c.204A>G, NM_001291540.2:c.204A>T, NM_001291540.2:c.204A>G, NM_001291540.1:c.204A>T, NM_001291540.1:c.204A>G, NM_001321271.1:c.204A>T, NM_001321271.1:c.204A>G, XP_006724859.1:p.Gln68His, NP_001278469.1:p.Gln68His, NP_001308200.1:p.Gln68His

Select item 2012051926.

rs201205192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:135865913 (GRCh38)
X:134948095 (GRCh37)
Canonical SPDI:: NC_000023.11:135865912:G:A,NC_000023.11:135865912:G:C
Gene:: CT45A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/2 (ALFA)
HGVS:: NC_000023.11:g.135865913G>A, NC_000023.11:g.135865913G>C, NW_004070887.1:g.797056G>A, NW_004070887.1:g.797056G>C, NC_000023.10:g.134948095G>A, NC_000023.10:g.134948095G>C, XM_006724796.3:c.230C>T, XM_006724796.3:c.230C>G, XM_006724796.2:c.230C>T, XM_006724796.2:c.230C>G, XM_006724796.1:c.230C>T, XM_006724796.1:c.230C>G, NM_001291540.2:c.230C>T, NM_001291540.2:c.230C>G, NM_001291540.1:c.230C>T, NM_001291540.1:c.230C>G, NM_001321271.1:c.230C>T, NM_001321271.1:c.230C>G, XP_006724859.1:p.Thr77Ile, XP_006724859.1:p.Thr77Ser, NP_001278469.1:p.Thr77Ile, NP_001278469.1:p.Thr77Ser, NP_001308200.1:p.Thr77Ile, NP_001308200.1:p.Thr77Ser

Select item 2010152477.

rs201015247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135885181 (GRCh38)
X:134967333 (GRCh37)
Canonical SPDI:: NC_000023.11:135885180:T:G
Gene:: CT45A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.1443/1173 (ALFA)
HGVS:: NC_000023.11:g.135885181T>G, NW_004070887.1:g.816324T>G, NC_000023.10:g.134967333G>T, NM_001007551.3:c.164A>C, NM_001007551.6:c.164A>C, NM_001007551.5:c.164A>C, NM_001007551.4:c.164A>C, NM_001291530.2:c.164A>C, NM_001291530.1:c.164A>C, NM_001291529.2:c.164A>C, NM_001291529.1:c.164A>C, NM_001291527.2:c.164A>C, NM_001291527.1:c.164A>C, NM_001291528.2:c.164A>C, NM_001291528.1:c.164A>C, NM_001172288.1:c.164A>C, NM_001172288.2:c.164A>C, NM_001385219.1:c.164A>C, NM_001385220.1:c.164A>C, NP_001278459.1:p.Glu55Ala, NP_001278458.1:p.Glu55Ala, NP_001278456.1:p.Glu55Ala, NP_001278457.1:p.Glu55Ala, NP_001372148.1:p.Glu55Ala, NP_001372149.1:p.Glu55Ala

Select item 1998796178.

rs199879617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:135865302 (GRCh38)
X:134947486 (GRCh37)
Canonical SPDI:: NC_000023.11:135865301:G:C
Gene:: CT45A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00027/7 (GnomAD_exomes)
C=0.0019/1 (ExAC)
HGVS:: NC_000023.11:g.135865302G>C, NW_004070887.1:g.796445G>C, NC_000023.10:g.134947486G>C, XM_006724796.3:c.461C>G, XM_006724796.2:c.461C>G, XM_006724796.1:c.461C>G, NM_001291540.2:c.461C>G, NM_001291540.1:c.461C>G, NM_001321271.1:c.461C>G, XP_006724859.1:p.Pro154Arg, NP_001278469.1:p.Pro154Arg, NP_001308200.1:p.Pro154Arg

Select item 21252609.

rs2125260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135865784 (GRCh38)
X:134947966 (GRCh37)
Canonical SPDI:: NC_000023.11:135865783:T:C
Gene:: CT45A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000099/18 (GnomAD_exomes)
C=0.000156/2 (TOMMO)
C=0.000196/17 (ExAC)
HGVS:: NC_000023.11:g.135865784T>C, NW_004070887.1:g.796927T>C, NC_000023.10:g.134947966T>C, XM_006724796.3:c.359A>G, XM_006724796.2:c.359A>G, XM_006724796.1:c.359A>G, NM_001291540.2:c.359A>G, NM_001291540.1:c.359A>G, NM_001321271.1:c.359A>G, XP_006724859.1:p.Gln120Arg, NP_001278469.1:p.Gln120Arg, NP_001308200.1:p.Gln120Arg

dbSNP

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