SNP Links for Protein (Select 296011028) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:7057805 (GRCh38)
X:6975846 (GRCh37)
Canonical SPDI:: NC_000023.11:7057804:G:A
Gene:: PUDP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.7057805G>A, NC_000023.10:g.6975846G>A, NG_021256.1:g.95386C>T, NM_001178135.2:c.529C>T, NM_001178135.1:c.529C>T, NP_001171606.1:p.Arg177Cys

Select item 14572554447.

rs1457255444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:7057727 (GRCh38)
X:6975768 (GRCh37)
Canonical SPDI:: NC_000023.11:7057726:G:T
Gene:: PUDP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.7057727G>T, NC_000023.10:g.6975768G>T, NG_021256.1:g.95464C>A, NM_001178135.2:c.607C>A, NM_001178135.1:c.607C>A, NP_001171606.1:p.Leu203Ile

Select item 14522142178.

rs1452214217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:7148084 (GRCh38)
X:7066125 (GRCh37)
Canonical SPDI:: NC_000023.11:7148083:G:A
Gene:: STS (Varview), PUDP (Varview), MIR4767 (Varview)
Functional Consequence:: splice_donor_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.7148084G>A, NC_000023.10:g.7066125G>A, NG_021472.2:g.5833G>A, NG_021256.1:g.5107C>T, NM_012080.5:c.30C>T, NM_012080.4:c.30C>T, NM_001135565.2:c.30C>T, NM_001135565.1:c.30C>T, NM_001178136.2:c.30C>T, NM_001178136.1:c.30C>T, NM_001178135.2:c.30C>T, NM_001178135.1:c.30C>T, XR_001755734.2:n.70C>T, XR_001755734.1:n.69C>T, XR_007068202.1:n.70C>T

Select item 14449490379.

rs1444949037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:7105759 (GRCh38)
X:7023800 (GRCh37)
Canonical SPDI:: NC_000023.11:7105758:G:A,NC_000023.11:7105758:G:C
Gene:: PUDP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.7105759G>A, NC_000023.11:g.7105759G>C, NC_000023.10:g.7023800G>A, NC_000023.10:g.7023800G>C, NG_021256.1:g.47432C>T, NG_021256.1:g.47432C>G, NM_012080.5:c.141C>T, NM_012080.5:c.141C>G, NM_012080.4:c.141C>T, NM_012080.4:c.141C>G, NM_001135565.2:c.210C>T, NM_001135565.2:c.210C>G, NM_001135565.1:c.210C>T, NM_001135565.1:c.210C>G, NM_001178136.2:c.141C>T, NM_001178136.2:c.141C>G, NM_001178136.1:c.141C>T, NM_001178136.1:c.141C>G, NM_001178135.2:c.141C>T, NM_001178135.2:c.141C>G, NM_001178135.1:c.141C>T, NM_001178135.1:c.141C>G, XR_001755734.2:n.181C>T, XR_001755734.2:n.181C>G, XR_001755734.1:n.180C>T, XR_001755734.1:n.180C>G, XR_007068202.1:n.181C>T, XR_007068202.1:n.181C>G

Select item 144359153110.

rs1443591531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:7077370 (GRCh38)
X:6995411 (GRCh37)
Canonical SPDI:: NC_000023.11:7077369:G:A
Gene:: PUDP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00013/3 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.7077370G>A, NC_000023.10:g.6995411G>A, NG_021256.1:g.75821C>T, NM_012080.5:c.360C>T, NM_012080.4:c.360C>T, NM_001135565.2:c.429C>T, NM_001135565.1:c.429C>T, NM_001178136.2:c.231C>T, NM_001178136.1:c.231C>T, NM_001178135.2:c.360C>T, NM_001178135.1:c.360C>T, XR_001755734.2:n.400C>T, XR_001755734.1:n.399C>T, XR_007068202.1:n.400C>T

Select item 144342011911.

rs1443420119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:7148107 (GRCh38)
X:7066148 (GRCh37)
Canonical SPDI:: NC_000023.11:7148106:C:T
Gene:: STS (Varview), PUDP (Varview), MIR4767 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,500B_downstream_variant
HGVS:: NC_000023.11:g.7148107C>T, NC_000023.10:g.7066148C>T, NG_021472.2:g.5856C>T, NG_021256.1:g.5084G>A, NM_012080.5:c.7G>A, NM_012080.4:c.7G>A, NM_001135565.2:c.7G>A, NM_001135565.1:c.7G>A, NM_001178136.2:c.7G>A, NM_001178136.1:c.7G>A, NM_001178135.2:c.7G>A, NM_001178135.1:c.7G>A, XR_001755734.2:n.47G>A, XR_001755734.1:n.46G>A, XR_007068202.1:n.47G>A, NP_036212.3:p.Ala3Thr, NP_001129037.1:p.Ala3Thr, NP_001171607.1:p.Ala3Thr, NP_001171606.1:p.Ala3Thr

Select item 144099880112.

rs1440998801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:7057736 (GRCh38)
X:6975777 (GRCh37)
Canonical SPDI:: NC_000023.11:7057735:G:T
Gene:: PUDP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.7057736G>T, NC_000023.10:g.6975777G>T, NG_021256.1:g.95455C>A, NM_001178135.2:c.598C>A, NM_001178135.1:c.598C>A, NP_001171606.1:p.Gln200Lys

Select item 143802017213.

rs1438020172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:7077441 (GRCh38)
X:6995482 (GRCh37)
Canonical SPDI:: NC_000023.11:7077440:T:C
Gene:: PUDP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.7077441T>C, NC_000023.10:g.6995482T>C, NG_021256.1:g.75750A>G, NM_012080.5:c.289A>G, NM_012080.4:c.289A>G, NM_001135565.2:c.358A>G, NM_001135565.1:c.358A>G, NM_001178136.2:c.160A>G, NM_001178136.1:c.160A>G, NM_001178135.2:c.289A>G, NM_001178135.1:c.289A>G, XR_001755734.2:n.329A>G, XR_001755734.1:n.328A>G, XR_007068202.1:n.329A>G, NP_036212.3:p.Lys97Glu, NP_001129037.1:p.Lys120Glu, NP_001171607.1:p.Lys54Glu, NP_001171606.1:p.Lys97Glu

Select item 143250638814.

rs1432506388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:7077254 (GRCh38)
X:6995295 (GRCh37)
Canonical SPDI:: NC_000023.11:7077253:G:A
Gene:: PUDP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.7077254G>A, NC_000023.10:g.6995295G>A, NG_021256.1:g.75937C>T, NM_012080.5:c.476C>T, NM_012080.4:c.476C>T, NM_001135565.2:c.545C>T, NM_001135565.1:c.545C>T, NM_001178136.2:c.347C>T, NM_001178136.1:c.347C>T, NM_001178135.2:c.476C>T, NM_001178135.1:c.476C>T, XR_001755734.2:n.516C>T, XR_001755734.1:n.515C>T, XR_007068202.1:n.516C>T, NP_036212.3:p.Ala159Val, NP_001129037.1:p.Ala182Val, NP_001171607.1:p.Ala116Val, NP_001171606.1:p.Ala159Val

Select item 143111192215.

rs1431111922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:7105621 (GRCh38)
X:7023662 (GRCh37)
Canonical SPDI:: NC_000023.11:7105620:T:C,NC_000023.11:7105620:T:G
Gene:: PUDP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.7105621T>C, NC_000023.11:g.7105621T>G, NC_000023.10:g.7023662T>C, NC_000023.10:g.7023662T>G, NG_021256.1:g.47570A>G, NG_021256.1:g.47570A>C, NM_012080.5:c.279A>G, NM_012080.5:c.279A>C, NM_012080.4:c.279A>G, NM_012080.4:c.279A>C, NM_001135565.2:c.348A>G, NM_001135565.2:c.348A>C, NM_001135565.1:c.348A>G, NM_001135565.1:c.348A>C, NM_001178135.2:c.279A>G, NM_001178135.2:c.279A>C, NM_001178135.1:c.279A>G, NM_001178135.1:c.279A>C, XR_001755734.2:n.319A>G, XR_001755734.2:n.319A>C, XR_001755734.1:n.318A>G, XR_001755734.1:n.318A>C, XR_007068202.1:n.319A>G, XR_007068202.1:n.319A>C

Select item 143053865216.

rs1430538652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:7057717 (GRCh38)
X:6975758 (GRCh37)
Canonical SPDI:: NC_000023.11:7057716:T:C
Gene:: PUDP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.7057717T>C, NC_000023.10:g.6975758T>C, NG_021256.1:g.95474A>G, NM_001178135.2:c.617A>G, NM_001178135.1:c.617A>G, NP_001171606.1:p.Asp206Gly

Select item 142455680917.

rs1424556809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:7057760 (GRCh38)
X:6975801 (GRCh37)
Canonical SPDI:: NC_000023.11:7057759:A:G
Gene:: PUDP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.7057760A>G, NC_000023.10:g.6975801A>G, NG_021256.1:g.95431T>C, NM_001178135.2:c.574T>C, NM_001178135.1:c.574T>C, NP_001171606.1:p.Ser192Pro

Select item 142301578418.

rs1423015784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:7057793 (GRCh38)
X:6975834 (GRCh37)
Canonical SPDI:: NC_000023.11:7057792:C:T
Gene:: PUDP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.7057793C>T, NC_000023.10:g.6975834C>T, NG_021256.1:g.95398G>A, NM_001178135.2:c.541G>A, NM_001178135.1:c.541G>A, NP_001171606.1:p.Ala181Thr

Select item 141985671719.

rs1419856717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:7057804 (GRCh38)
X:6975845 (GRCh37)
Canonical SPDI:: NC_000023.11:7057803:C:T
Gene:: PUDP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00022/2 (ALFA)
T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.7057804C>T, NC_000023.10:g.6975845C>T, NG_021256.1:g.95387G>A, NM_001178135.2:c.530G>A, NM_001178135.1:c.530G>A, NP_001171606.1:p.Arg177His

Select item 141340929620.

rs1413409296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:7057790 (GRCh38)
X:6975831 (GRCh37)
Canonical SPDI:: NC_000023.11:7057789:G:A
Gene:: PUDP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.7057790G>A, NC_000023.10:g.6975831G>A, NG_021256.1:g.95401C>T, NM_001178135.2:c.544C>T, NM_001178135.1:c.544C>T, NP_001171606.1:p.Gln182Ter

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