SNP Links for Protein (Select 10092677) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 350

<< First< Prev

Page of 18

Next >Last >>

Select item 14907574281.

rs1490757428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37659183 (GRCh38)
22:38055190 (GRCh37)
Canonical SPDI:: NC_000022.11:37659182:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37659183G>T, NC_000022.10:g.38055190G>T, NG_053097.2:g.24709G>T, NM_020315.5:c.401G>T, NM_020315.4:c.401G>T, NP_064711.1:p.Ser134Ile

Select item 14903441142.

rs1490344114 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:37659193 (GRCh38)
22:38055201 (GRCh37)
Canonical SPDI:: NC_000022.11:37659193:GG:GGG
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.37659195dup, NC_000022.10:g.38055202dup, NG_053097.2:g.24721dup, NM_020315.5:c.413dup, NM_020315.4:c.413dup, NP_064711.1:p.Ala139fs

Select item 14855649853.

rs1485564985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:37659094 (GRCh38)
22:38055101 (GRCh37)
Canonical SPDI:: NC_000022.11:37659093:G:A,NC_000022.11:37659093:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37659094G>A, NC_000022.11:g.37659094G>T, NC_000022.10:g.38055101G>A, NC_000022.10:g.38055101G>T, NG_053097.2:g.24620G>A, NG_053097.2:g.24620G>T, NM_020315.5:c.312G>A, NM_020315.5:c.312G>T, NM_020315.4:c.312G>A, NM_020315.4:c.312G>T

Select item 14847797084.

rs1484779708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37659045 (GRCh38)
22:38055052 (GRCh37)
Canonical SPDI:: NC_000022.11:37659044:C:G
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.37659045C>G, NC_000022.10:g.38055052C>G, NG_053097.2:g.24571C>G, NM_020315.5:c.263C>G, NM_020315.4:c.263C>G, NP_064711.1:p.Ser88Cys

Select item 14801493215.

rs1480149321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37659022 (GRCh38)
22:38055029 (GRCh37)
Canonical SPDI:: NC_000022.11:37659021:G:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.37659022G>A, NC_000022.10:g.38055029G>A, NG_053097.2:g.24548G>A, NM_020315.5:c.240G>A, NM_020315.4:c.240G>A

Select item 14798957996.

rs1479895799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37659206 (GRCh38)
22:38055213 (GRCh37)
Canonical SPDI:: NC_000022.11:37659205:C:G
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.37659206C>G, NC_000022.10:g.38055213C>G, NG_053097.2:g.24732C>G, NM_020315.5:c.424C>G, NM_020315.4:c.424C>G, NP_064711.1:p.Arg142Gly

Select item 14791255627.

rs1479125562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37665575 (GRCh38)
22:38061582 (GRCh37)
Canonical SPDI:: NC_000022.11:37665574:G:A
Gene:: PDXP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37665575G>A, NC_000022.10:g.38061582G>A, NG_053097.2:g.31101G>A, NM_020315.5:c.595G>A, NM_020315.4:c.595G>A, NP_064711.1:p.Ala199Thr

Select item 14784554398.

rs1478455439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:37659020 (GRCh38)
22:38055027 (GRCh37)
Canonical SPDI:: NC_000022.11:37659019:C:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.37659020C>A, NC_000022.10:g.38055027C>A, NG_053097.2:g.24546C>A, NM_020315.5:c.238C>A, NM_020315.4:c.238C>A, NP_064711.1:p.Leu80Met

Select item 14783924359.

rs1478392435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37658786 (GRCh38)
22:38054793 (GRCh37)
Canonical SPDI:: NC_000022.11:37658785:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37658786G>T, NC_000022.10:g.38054793G>T, NG_053097.2:g.24312G>T, NM_020315.5:c.4G>T, NM_020315.4:c.4G>T, NP_064711.1:p.Ala2Ser

Select item 147414076210.

rs1474140762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:37659084 (GRCh38)
22:38055091 (GRCh37)
Canonical SPDI:: NC_000022.11:37659083:C:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37659084C>A, NC_000022.10:g.38055091C>A, NG_053097.2:g.24610C>A, NM_020315.5:c.302C>A, NM_020315.4:c.302C>A, NP_064711.1:p.Pro101His

Select item 147039747511.

rs1470397475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37659102 (GRCh38)
22:38055109 (GRCh37)
Canonical SPDI:: NC_000022.11:37659101:C:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.37659102C>T, NC_000022.10:g.38055109C>T, NG_053097.2:g.24628C>T, NM_020315.5:c.320C>T, NM_020315.4:c.320C>T, NP_064711.1:p.Pro107Leu

Select item 146925485612.

rs1469254856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37659104 (GRCh38)
22:38055111 (GRCh37)
Canonical SPDI:: NC_000022.11:37659103:G:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000022.11:g.37659104G>A, NC_000022.10:g.38055111G>A, NG_053097.2:g.24630G>A, NM_020315.5:c.322G>A, NM_020315.4:c.322G>A, NP_064711.1:p.Gly108Ser

Select item 146799224213.

rs1467992242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37658880 (GRCh38)
22:38054887 (GRCh37)
Canonical SPDI:: NC_000022.11:37658879:G:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.37658880G>A, NC_000022.10:g.38054887G>A, NG_053097.2:g.24406G>A, NM_020315.5:c.98G>A, NM_020315.4:c.98G>A, NP_064711.1:p.Gly33Asp

Select item 146793052614.

rs1467930526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37658791 (GRCh38)
22:38054798 (GRCh37)
Canonical SPDI:: NC_000022.11:37658790:C:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37658791C>T, NC_000022.10:g.38054798C>T, NG_053097.2:g.24317C>T, NM_020315.5:c.9C>T, NM_020315.4:c.9C>T

Select item 146645610515.

rs1466456105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37658888 (GRCh38)
22:38054895 (GRCh37)
Canonical SPDI:: NC_000022.11:37658887:G:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.37658888G>A, NC_000022.10:g.38054895G>A, NG_053097.2:g.24414G>A, NM_020315.5:c.106G>A, NM_020315.4:c.106G>A, NP_064711.1:p.Ala36Thr

Select item 146262814016.

rs1462628140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37665825 (GRCh38)
22:38061832 (GRCh37)
Canonical SPDI:: NC_000022.11:37665824:A:G
Gene:: PDXP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.37665825A>G, NC_000022.10:g.38061832A>G, NG_053097.2:g.31351A>G, NM_020315.5:c.845A>G, NM_020315.4:c.845A>G, NP_064711.1:p.Tyr282Cys

Select item 146240525717.

rs1462405257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:37658951 (GRCh38)
22:38054958 (GRCh37)
Canonical SPDI:: NC_000022.11:37658950:G:A,NC_000022.11:37658950:G:C,NC_000022.11:37658950:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37658951G>A, NC_000022.11:g.37658951G>C, NC_000022.11:g.37658951G>T, NC_000022.10:g.38054958G>A, NC_000022.10:g.38054958G>C, NC_000022.10:g.38054958G>T, NG_053097.2:g.24477G>A, NG_053097.2:g.24477G>C, NG_053097.2:g.24477G>T, NM_020315.5:c.169G>A, NM_020315.5:c.169G>C, NM_020315.5:c.169G>T, NM_020315.4:c.169G>A, NM_020315.4:c.169G>C, NM_020315.4:c.169G>T, NP_064711.1:p.Val57Met, NP_064711.1:p.Val57Leu, NP_064711.1:p.Val57Leu

Select item 146161507018.

rs1461615070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37659032 (GRCh38)
22:38055039 (GRCh37)
Canonical SPDI:: NC_000022.11:37659031:C:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.37659032C>T, NC_000022.10:g.38055039C>T, NG_053097.2:g.24558C>T, NM_020315.5:c.250C>T, NM_020315.4:c.250C>T, NP_064711.1:p.Gln84Ter

Select item 146129626319.

rs1461296263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37659178 (GRCh38)
22:38055185 (GRCh37)
Canonical SPDI:: NC_000022.11:37659177:C:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37659178C>T, NC_000022.10:g.38055185C>T, NG_053097.2:g.24704C>T, NM_020315.5:c.396C>T, NM_020315.4:c.396C>T

Select item 146019079520.

rs1460190795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37665830 (GRCh38)
22:38061837 (GRCh37)
Canonical SPDI:: NC_000022.11:37665829:G:A
Gene:: PDXP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37665830G>A, NC_000022.10:g.38061837G>A, NG_053097.2:g.31356G>A, NM_020315.5:c.850G>A, NM_020315.4:c.850G>A, NP_064711.1:p.Val284Met