SNP Links for Protein (Select 29725611) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 280

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Select item 14889938131.

rs1488993813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129137653 (GRCh38)
9:131899932 (GRCh37)
Canonical SPDI:: NC_000009.12:129137652:G:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.129137653G>A, NC_000009.11:g.131899932G>A, NG_029370.1:g.31705G>A, NM_021131.5:c.747G>A, NM_021131.4:c.747G>A, NM_178001.3:c.852G>A, NM_178001.2:c.852G>A, NM_178000.3:c.747G>A, NM_178000.2:c.747G>A, NM_178003.3:c.621G>A, NM_178003.2:c.621G>A, NM_001271832.2:c.660G>A, NM_001271832.1:c.660G>A, NM_001193397.2:c.642G>A, NM_001193397.1:c.642G>A, XM_011518834.3:c.897G>A, XM_011518834.2:c.897G>A, XM_011518834.1:c.897G>A, XM_011518836.3:c.810G>A, XM_011518836.2:c.810G>A, XM_011518836.1:c.810G>A, XM_011518838.3:c.810G>A, XM_011518838.2:c.810G>A, XM_011518838.1:c.810G>A, XM_047423559.1:c.1002G>A, XM_047423560.1:c.1002G>A, NM_178002.1:c.174G>A

Select item 14840252422.

rs1484025242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129131621 (GRCh38)
9:131893900 (GRCh37)
Canonical SPDI:: NC_000009.12:129131620:C:T
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129131621C>T, NC_000009.11:g.131893900C>T, NG_029370.1:g.25673C>T, NM_021131.5:c.442C>T, NM_021131.4:c.442C>T, NM_178001.3:c.547C>T, NM_178001.2:c.547C>T, NM_178000.3:c.442C>T, NM_178000.2:c.442C>T, NM_178003.3:c.316C>T, NM_178003.2:c.316C>T, NM_001271832.2:c.355C>T, NM_001271832.1:c.355C>T, NM_001193397.2:c.337C>T, NM_001193397.1:c.337C>T, XM_011518834.3:c.592C>T, XM_011518834.2:c.592C>T, XM_011518834.1:c.592C>T, XM_011518836.3:c.505C>T, XM_011518836.2:c.505C>T, XM_011518836.1:c.505C>T, XM_011518838.3:c.505C>T, XM_011518838.2:c.505C>T, XM_011518838.1:c.505C>T, XM_047423559.1:c.697C>T, XM_047423560.1:c.697C>T, NM_178002.1:c.-132C>T, NP_066954.2:p.Arg148Cys, NP_821068.1:p.Arg183Cys, NP_821067.1:p.Arg148Cys, NP_821070.1:p.Arg106Cys, NP_001258761.1:p.Arg119Cys, NP_001180326.1:p.Arg113Cys, XP_011517136.1:p.Arg198Cys, XP_011517138.1:p.Arg169Cys, XP_011517140.1:p.Arg169Cys, XP_047279515.1:p.Arg233Cys, XP_047279516.1:p.Arg233Cys

Select item 14831118073.

rs1483111807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:129120587 (GRCh38)
9:131882866 (GRCh37)
Canonical SPDI:: NC_000009.12:129120586:A:T
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129120587A>T, NC_000009.11:g.131882866A>T, NG_029370.1:g.14639A>T, NM_021131.5:c.106A>T, NM_021131.4:c.106A>T, NM_178001.3:c.106A>T, NM_178001.2:c.106A>T, NM_178000.3:c.106A>T, NM_178000.2:c.106A>T, NM_178003.3:c.106A>T, NM_178003.2:c.106A>T, NM_001271832.2:c.106A>T, NM_001271832.1:c.106A>T, NM_001193397.2:c.1A>T, NM_001193397.1:c.1A>T, XM_011518834.3:c.256A>T, XM_011518834.2:c.256A>T, XM_011518834.1:c.256A>T, XM_011518836.3:c.256A>T, XM_011518836.2:c.256A>T, XM_011518836.1:c.256A>T, XM_011518838.3:c.256A>T, XM_011518838.2:c.256A>T, XM_011518838.1:c.256A>T, XM_047423559.1:c.256A>T, XM_047423560.1:c.256A>T, NP_066954.2:p.Met36Leu, NP_821068.1:p.Met36Leu, NP_821067.1:p.Met36Leu, NP_821070.1:p.Met36Leu, NP_001258761.1:p.Met36Leu, NP_001180326.1:p.Met1Leu, XP_011517136.1:p.Met86Leu, XP_011517138.1:p.Met86Leu, XP_011517140.1:p.Met86Leu, XP_047279515.1:p.Met86Leu, XP_047279516.1:p.Met86Leu

Select item 14824047254.

rs1482404725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:129137648 (GRCh38)
9:131899927 (GRCh37)
Canonical SPDI:: NC_000009.12:129137647:C:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.129137648C>A, NC_000009.11:g.131899927C>A, NG_029370.1:g.31700C>A, NM_021131.5:c.742C>A, NM_021131.4:c.742C>A, NM_178001.3:c.847C>A, NM_178001.2:c.847C>A, NM_178000.3:c.742C>A, NM_178000.2:c.742C>A, NM_178003.3:c.616C>A, NM_178003.2:c.616C>A, NM_001271832.2:c.655C>A, NM_001271832.1:c.655C>A, NM_001193397.2:c.637C>A, NM_001193397.1:c.637C>A, XM_011518834.3:c.892C>A, XM_011518834.2:c.892C>A, XM_011518834.1:c.892C>A, XM_011518836.3:c.805C>A, XM_011518836.2:c.805C>A, XM_011518836.1:c.805C>A, XM_011518838.3:c.805C>A, XM_011518838.2:c.805C>A, XM_011518838.1:c.805C>A, XM_047423559.1:c.997C>A, XM_047423560.1:c.997C>A, NM_178002.1:c.169C>A, NP_066954.2:p.His248Asn, NP_821068.1:p.His283Asn, NP_821067.1:p.His248Asn, NP_821070.1:p.His206Asn, NP_001258761.1:p.His219Asn, NP_001180326.1:p.His213Asn, XP_011517136.1:p.His298Asn, XP_011517138.1:p.His269Asn, XP_011517140.1:p.His269Asn, XP_047279515.1:p.His333Asn, XP_047279516.1:p.His333Asn

Select item 14725951845.

rs1472595184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:129120523 (GRCh38)
9:131882802 (GRCh37)
Canonical SPDI:: NC_000009.12:129120522:G:C
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129120523G>C, NC_000009.11:g.131882802G>C, NG_029370.1:g.14575G>C, NM_021131.5:c.42G>C, NM_021131.4:c.42G>C, NM_178001.3:c.42G>C, NM_178001.2:c.42G>C, NM_178000.3:c.42G>C, NM_178000.2:c.42G>C, NM_178003.3:c.42G>C, NM_178003.2:c.42G>C, NM_001271832.2:c.42G>C, NM_001271832.1:c.42G>C, NM_001193397.2:c.-64G>C, NM_001193397.1:c.-64G>C, XM_011518834.3:c.192G>C, XM_011518834.2:c.192G>C, XM_011518834.1:c.192G>C, XM_011518836.3:c.192G>C, XM_011518836.2:c.192G>C, XM_011518836.1:c.192G>C, XM_011518838.3:c.192G>C, XM_011518838.2:c.192G>C, XM_011518838.1:c.192G>C, XM_047423559.1:c.192G>C, XM_047423560.1:c.192G>C, NP_066954.2:p.Glu14Asp, NP_821068.1:p.Glu14Asp, NP_821067.1:p.Glu14Asp, NP_821070.1:p.Glu14Asp, NP_001258761.1:p.Glu14Asp, XP_011517136.1:p.Glu64Asp, XP_011517138.1:p.Glu64Asp, XP_011517140.1:p.Glu64Asp, XP_047279515.1:p.Glu64Asp, XP_047279516.1:p.Glu64Asp

Select item 14716047416.

rs1471604741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129134848 (GRCh38)
9:131897127 (GRCh37)
Canonical SPDI:: NC_000009.12:129134847:C:T
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129134848C>T, NC_000009.11:g.131897127C>T, NG_029370.1:g.28900C>T, NM_021131.5:c.514C>T, NM_021131.4:c.514C>T, NM_178001.3:c.619C>T, NM_178001.2:c.619C>T, NM_178000.3:c.514C>T, NM_178000.2:c.514C>T, NM_178003.3:c.388C>T, NM_178003.2:c.388C>T, NM_001271832.2:c.427C>T, NM_001271832.1:c.427C>T, NM_001193397.2:c.409C>T, NM_001193397.1:c.409C>T, XM_011518834.3:c.664C>T, XM_011518834.2:c.664C>T, XM_011518834.1:c.664C>T, XM_011518836.3:c.577C>T, XM_011518836.2:c.577C>T, XM_011518836.1:c.577C>T, XM_011518838.3:c.577C>T, XM_011518838.2:c.577C>T, XM_011518838.1:c.577C>T, XM_047423559.1:c.769C>T, XM_047423560.1:c.769C>T, NM_178002.1:c.-60C>T, NP_066954.2:p.Leu172Phe, NP_821068.1:p.Leu207Phe, NP_821067.1:p.Leu172Phe, NP_821070.1:p.Leu130Phe, NP_001258761.1:p.Leu143Phe, NP_001180326.1:p.Leu137Phe, XP_011517136.1:p.Leu222Phe, XP_011517138.1:p.Leu193Phe, XP_011517140.1:p.Leu193Phe, XP_047279515.1:p.Leu257Phe, XP_047279516.1:p.Leu257Phe

Select item 14676261557.

rs1467626155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:129129022 (GRCh38)
9:131891301 (GRCh37)
Canonical SPDI:: NC_000009.12:129129021:A:G
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129129022A>G, NC_000009.11:g.131891301A>G, NG_029370.1:g.23074A>G, NM_021131.5:c.254A>G, NM_021131.4:c.254A>G, NM_178001.3:c.359A>G, NM_178001.2:c.359A>G, NM_178000.3:c.254A>G, NM_178000.2:c.254A>G, NM_001271832.2:c.167A>G, NM_001271832.1:c.167A>G, NM_001193397.2:c.149A>G, NM_001193397.1:c.149A>G, XM_011518834.3:c.404A>G, XM_011518834.2:c.404A>G, XM_011518834.1:c.404A>G, XM_011518836.3:c.317A>G, XM_011518836.2:c.317A>G, XM_011518836.1:c.317A>G, XM_011518838.3:c.317A>G, XM_011518838.2:c.317A>G, XM_011518838.1:c.317A>G, XM_047423559.1:c.509A>G, XM_047423560.1:c.509A>G, NM_178002.1:c.-320A>G, NP_066954.2:p.Asp85Gly, NP_821068.1:p.Asp120Gly, NP_821067.1:p.Asp85Gly, NP_001258761.1:p.Asp56Gly, NP_001180326.1:p.Asp50Gly, XP_011517136.1:p.Asp135Gly, XP_011517138.1:p.Asp106Gly, XP_011517140.1:p.Asp106Gly, XP_047279515.1:p.Asp170Gly, XP_047279516.1:p.Asp170Gly

Select item 14655772788.

rs1465577278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:129123054 (GRCh38)
9:131885333 (GRCh37)
Canonical SPDI:: NC_000009.12:129123053:A:G,NC_000009.12:129123053:A:T
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129123054A>G, NC_000009.12:g.129123054A>T, NC_000009.11:g.131885333A>G, NC_000009.11:g.131885333A>T, NG_029370.1:g.17106A>G, NG_029370.1:g.17106A>T, NM_021131.5:c.132A>G, NM_021131.5:c.132A>T, NM_021131.4:c.132A>G, NM_021131.4:c.132A>T, NM_178001.3:c.132A>G, NM_178001.3:c.132A>T, NM_178001.2:c.132A>G, NM_178001.2:c.132A>T, NM_178000.3:c.132A>G, NM_178000.3:c.132A>T, NM_178000.2:c.132A>G, NM_178000.2:c.132A>T, NM_178003.3:c.132A>G, NM_178003.3:c.132A>T, NM_178003.2:c.132A>G, NM_178003.2:c.132A>T, NM_001193397.2:c.27A>G, NM_001193397.2:c.27A>T, NM_001193397.1:c.27A>G, NM_001193397.1:c.27A>T, XM_011518834.3:c.282A>G, XM_011518834.3:c.282A>T, XM_011518834.2:c.282A>G, XM_011518834.2:c.282A>T, XM_011518834.1:c.282A>G, XM_011518834.1:c.282A>T, XM_047423559.1:c.282A>G, XM_047423559.1:c.282A>T, XM_047423560.1:c.282A>G, XM_047423560.1:c.282A>T, NM_178002.1:c.-442A>G, NM_178002.1:c.-442A>T

Select item 14622519709.

rs1462251970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:129136511 (GRCh38)
9:131898790 (GRCh37)
Canonical SPDI:: NC_000009.12:129136510:A:T
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129136511A>T, NC_000009.11:g.131898790A>T, NG_029370.1:g.30563A>T, NM_021131.5:c.601A>T, NM_021131.4:c.601A>T, NM_178001.3:c.706A>T, NM_178001.2:c.706A>T, NM_178000.3:c.601A>T, NM_178000.2:c.601A>T, NM_178003.3:c.475A>T, NM_178003.2:c.475A>T, NM_001271832.2:c.514A>T, NM_001271832.1:c.514A>T, NM_001193397.2:c.496A>T, NM_001193397.1:c.496A>T, XM_011518834.3:c.751A>T, XM_011518834.2:c.751A>T, XM_011518834.1:c.751A>T, XM_011518836.3:c.664A>T, XM_011518836.2:c.664A>T, XM_011518836.1:c.664A>T, XM_011518838.3:c.664A>T, XM_011518838.2:c.664A>T, XM_011518838.1:c.664A>T, XM_047423559.1:c.856A>T, XM_047423560.1:c.856A>T, NM_178002.1:c.28A>T, NP_066954.2:p.Met201Leu, NP_821068.1:p.Met236Leu, NP_821067.1:p.Met201Leu, NP_821070.1:p.Met159Leu, NP_001258761.1:p.Met172Leu, NP_001180326.1:p.Met166Leu, XP_011517136.1:p.Met251Leu, XP_011517138.1:p.Met222Leu, XP_011517140.1:p.Met222Leu, XP_047279515.1:p.Met286Leu, XP_047279516.1:p.Met286Leu

Select item 146049602110.

rs1460496021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTA [Show Flanks]
Chromosome:: 9:129111629 (GRCh38)
9:131873909 (GRCh37)
Canonical SPDI:: NC_000009.12:129111629:AGGTA:AGGTAGGTA
Gene:: CRAT (Varview), PTPA (Varview)
Functional Consequence:: splice_donor_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGTAGGTA=0.000224/1 (ALFA)
AGGT=0.000007/1 (GnomAD)
AGGT=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.129111631_129111634dup, NC_000009.11:g.131873910_131873913dup, NG_029370.1:g.5683_5686dup

Select item 145789919911.

rs1457899199 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAACATA>- [Show Flanks]
Chromosome:: 9:129136498 (GRCh38)
9:131898777 (GRCh37)
Canonical SPDI:: NC_000009.12:129136496:AGAAAACATA:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.129136498_129136506del, NC_000009.11:g.131898777_131898785del, NG_029370.1:g.30550_30558del, NM_021131.5:c.588_596del, NM_021131.4:c.588_596del, NM_178001.3:c.693_701del, NM_178001.2:c.693_701del, NM_178000.3:c.588_596del, NM_178000.2:c.588_596del, NM_178003.3:c.462_470del, NM_178003.2:c.462_470del, NM_001271832.2:c.501_509del, NM_001271832.1:c.501_509del, NM_001193397.2:c.483_491del, NM_001193397.1:c.483_491del, XM_011518834.3:c.738_746del, XM_011518834.2:c.738_746del, XM_011518834.1:c.738_746del, XM_011518836.3:c.651_659del, XM_011518836.2:c.651_659del, XM_011518836.1:c.651_659del, XM_011518838.3:c.651_659del, XM_011518838.2:c.651_659del, XM_011518838.1:c.651_659del, XM_047423559.1:c.843_851del, XM_047423560.1:c.843_851del, NM_178002.1:c.15_23del, NP_066954.2:p.Gln196_Tyr199delinsHis, NP_821068.1:p.Gln231_Tyr234delinsHis, NP_821067.1:p.Gln196_Tyr199delinsHis, NP_821070.1:p.Gln154_Tyr157delinsHis, NP_001258761.1:p.Gln167_Tyr170delinsHis, NP_001180326.1:p.Gln161_Tyr164delinsHis, XP_011517136.1:p.Gln246_Tyr249delinsHis, XP_011517138.1:p.Gln217_Tyr220delinsHis, XP_011517140.1:p.Gln217_Tyr220delinsHis, XP_047279515.1:p.Gln281_Tyr284delinsHis, XP_047279516.1:p.Gln281_Tyr284delinsHis

Select item 145313644012.

rs1453136440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129120601 (GRCh38)
9:131882880 (GRCh37)
Canonical SPDI:: NC_000009.12:129120600:G:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129120601G>A, NC_000009.11:g.131882880G>A, NG_029370.1:g.14653G>A, NM_021131.5:c.120G>A, NM_021131.4:c.120G>A, NM_178001.3:c.120G>A, NM_178001.2:c.120G>A, NM_178000.3:c.120G>A, NM_178000.2:c.120G>A, NM_178003.3:c.120G>A, NM_178003.2:c.120G>A, NM_001271832.2:c.120G>A, NM_001271832.1:c.120G>A, NM_001193397.2:c.15G>A, NM_001193397.1:c.15G>A, XM_011518834.3:c.270G>A, XM_011518834.2:c.270G>A, XM_011518834.1:c.270G>A, XM_011518836.3:c.270G>A, XM_011518836.2:c.270G>A, XM_011518836.1:c.270G>A, XM_011518838.3:c.270G>A, XM_011518838.2:c.270G>A, XM_011518838.1:c.270G>A, XM_047423559.1:c.270G>A, XM_047423560.1:c.270G>A

Select item 143751355913.

rs1437513559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129123111 (GRCh38)
9:131885390 (GRCh37)
Canonical SPDI:: NC_000009.12:129123110:G:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.129123111G>A, NC_000009.11:g.131885390G>A, NG_029370.1:g.17163G>A, NM_021131.5:c.189G>A, NM_021131.4:c.189G>A, NM_178001.3:c.189G>A, NM_178001.2:c.189G>A, NM_178000.3:c.189G>A, NM_178000.2:c.189G>A, NM_178003.3:c.189G>A, NM_178003.2:c.189G>A, NM_001193397.2:c.84G>A, NM_001193397.1:c.84G>A, XM_011518834.3:c.339G>A, XM_011518834.2:c.339G>A, XM_011518834.1:c.339G>A, XM_047423559.1:c.339G>A, XM_047423560.1:c.339G>A, NM_178002.1:c.-385G>A

Select item 143597961314.

rs1435979613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129142497 (GRCh38)
9:131904776 (GRCh37)
Canonical SPDI:: NC_000009.12:129142496:C:T
Gene:: PTPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.129142497C>T, NC_000009.11:g.131904776C>T, NG_029370.1:g.36549C>T, NM_021131.5:c.839C>T, NM_021131.4:c.839C>T, NM_178001.3:c.944C>T, NM_178001.2:c.944C>T, NM_178000.3:c.839C>T, NM_178000.2:c.839C>T, NM_178003.3:c.713C>T, NM_178003.2:c.713C>T, NM_001271832.2:c.752C>T, NM_001271832.1:c.752C>T, NM_001193397.2:c.734C>T, NM_001193397.1:c.734C>T, XM_011518834.3:c.989C>T, XM_011518834.2:c.989C>T, XM_011518834.1:c.989C>T, XM_011518836.3:c.902C>T, XM_011518836.2:c.902C>T, XM_011518836.1:c.902C>T, XM_011518838.3:c.902C>T, XM_011518838.2:c.902C>T, XM_011518838.1:c.902C>T, XM_047423559.1:c.1094C>T, XM_047423560.1:c.1094C>T, NM_178002.1:c.266C>T, NP_066954.2:p.Ala280Val, NP_821068.1:p.Ala315Val, NP_821067.1:p.Ala280Val, NP_821070.1:p.Ala238Val, NP_001258761.1:p.Ala251Val, NP_001180326.1:p.Ala245Val, XP_011517136.1:p.Ala330Val, XP_011517138.1:p.Ala301Val, XP_011517140.1:p.Ala301Val, XP_047279515.1:p.Ala365Val, XP_047279516.1:p.Ala365Val

Select item 143491848215.

rs1434918482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:129134871 (GRCh38)
9:131897150 (GRCh37)
Canonical SPDI:: NC_000009.12:129134870:T:C
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129134871T>C, NC_000009.11:g.131897150T>C, NG_029370.1:g.28923T>C, NM_021131.5:c.537T>C, NM_021131.4:c.537T>C, NM_178001.3:c.642T>C, NM_178001.2:c.642T>C, NM_178000.3:c.537T>C, NM_178000.2:c.537T>C, NM_178003.3:c.411T>C, NM_178003.2:c.411T>C, NM_001271832.2:c.450T>C, NM_001271832.1:c.450T>C, NM_001193397.2:c.432T>C, NM_001193397.1:c.432T>C, XM_011518834.3:c.687T>C, XM_011518834.2:c.687T>C, XM_011518834.1:c.687T>C, XM_011518836.3:c.600T>C, XM_011518836.2:c.600T>C, XM_011518836.1:c.600T>C, XM_011518838.3:c.600T>C, XM_011518838.2:c.600T>C, XM_011518838.1:c.600T>C, XM_047423559.1:c.792T>C, XM_047423560.1:c.792T>C, NM_178002.1:c.-37T>C

Select item 143306494016.

rs1433064940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129137594 (GRCh38)
9:131899873 (GRCh37)
Canonical SPDI:: NC_000009.12:129137593:C:T
Gene:: PTPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129137594C>T, NC_000009.11:g.131899873C>T, NG_029370.1:g.31646C>T, NM_021131.5:c.688C>T, NM_021131.4:c.688C>T, NM_178001.3:c.793C>T, NM_178001.2:c.793C>T, NM_178000.3:c.688C>T, NM_178000.2:c.688C>T, NM_178003.3:c.562C>T, NM_178003.2:c.562C>T, NM_001271832.2:c.601C>T, NM_001271832.1:c.601C>T, NM_001193397.2:c.583C>T, NM_001193397.1:c.583C>T, XM_011518834.3:c.838C>T, XM_011518834.2:c.838C>T, XM_011518834.1:c.838C>T, XM_011518836.3:c.751C>T, XM_011518836.2:c.751C>T, XM_011518836.1:c.751C>T, XM_011518838.3:c.751C>T, XM_011518838.2:c.751C>T, XM_011518838.1:c.751C>T, XM_047423559.1:c.943C>T, XM_047423560.1:c.943C>T, NM_178002.1:c.115C>T, NP_066954.2:p.His230Tyr, NP_821068.1:p.His265Tyr, NP_821067.1:p.His230Tyr, NP_821070.1:p.His188Tyr, NP_001258761.1:p.His201Tyr, NP_001180326.1:p.His195Tyr, XP_011517136.1:p.His280Tyr, XP_011517138.1:p.His251Tyr, XP_011517140.1:p.His251Tyr, XP_047279515.1:p.His315Tyr, XP_047279516.1:p.His315Tyr

Select item 143174865417.

rs1431748654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129129079 (GRCh38)
9:131891358 (GRCh37)
Canonical SPDI:: NC_000009.12:129129078:C:T
Gene:: PTPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129129079C>T, NC_000009.11:g.131891358C>T, NG_029370.1:g.23131C>T, NM_021131.5:c.311C>T, NM_021131.4:c.311C>T, NM_178001.3:c.416C>T, NM_178001.2:c.416C>T, NM_178000.3:c.311C>T, NM_178000.2:c.311C>T, NM_001271832.2:c.224C>T, NM_001271832.1:c.224C>T, NM_001193397.2:c.206C>T, NM_001193397.1:c.206C>T, XM_011518834.3:c.461C>T, XM_011518834.2:c.461C>T, XM_011518834.1:c.461C>T, XM_011518836.3:c.374C>T, XM_011518836.2:c.374C>T, XM_011518836.1:c.374C>T, XM_011518838.3:c.374C>T, XM_011518838.2:c.374C>T, XM_011518838.1:c.374C>T, XM_047423559.1:c.566C>T, XM_047423560.1:c.566C>T, NM_178002.1:c.-263C>T, NP_066954.2:p.Ala104Val, NP_821068.1:p.Ala139Val, NP_821067.1:p.Ala104Val, NP_001258761.1:p.Ala75Val, NP_001180326.1:p.Ala69Val, XP_011517136.1:p.Ala154Val, XP_011517138.1:p.Ala125Val, XP_011517140.1:p.Ala125Val, XP_047279515.1:p.Ala189Val, XP_047279516.1:p.Ala189Val

Select item 143061777118.

rs1430617771 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAAACT>- [Show Flanks]
Chromosome:: 9:129136488 (GRCh38)
9:131898767 (GRCh37)
Canonical SPDI:: NC_000009.12:129136487:GGAAACT:
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129136488_129136494del, NC_000009.11:g.131898767_131898773del, NG_029370.1:g.30540_30546del, NM_021131.5:c.578_584del, NM_021131.4:c.578_584del, NM_178001.3:c.683_689del, NM_178001.2:c.683_689del, NM_178000.3:c.578_584del, NM_178000.2:c.578_584del, NM_178003.3:c.452_458del, NM_178003.2:c.452_458del, NM_001271832.2:c.491_497del, NM_001271832.1:c.491_497del, NM_001193397.2:c.473_479del, NM_001193397.1:c.473_479del, XM_011518834.3:c.728_734del, XM_011518834.2:c.728_734del, XM_011518834.1:c.728_734del, XM_011518836.3:c.641_647del, XM_011518836.2:c.641_647del, XM_011518836.1:c.641_647del, XM_011518838.3:c.641_647del, XM_011518838.2:c.641_647del, XM_011518838.1:c.641_647del, XM_047423559.1:c.833_839del, XM_047423560.1:c.833_839del, NM_178002.1:c.5_11del, NP_066954.2:p.Arg193fs, NP_821068.1:p.Arg228fs, NP_821067.1:p.Arg193fs, NP_821070.1:p.Arg151fs, NP_001258761.1:p.Arg164fs, NP_001180326.1:p.Arg158fs, XP_011517136.1:p.Arg243fs, XP_011517138.1:p.Arg214fs, XP_011517140.1:p.Arg214fs, XP_047279515.1:p.Arg278fs, XP_047279516.1:p.Arg278fs

Select item 142989367419.

rs1429893674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129136488 (GRCh38)
9:131898767 (GRCh37)
Canonical SPDI:: NC_000009.12:129136487:G:A
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.129136488G>A, NC_000009.11:g.131898767G>A, NG_029370.1:g.30540G>A, NM_021131.5:c.578G>A, NM_021131.4:c.578G>A, NM_178001.3:c.683G>A, NM_178001.2:c.683G>A, NM_178000.3:c.578G>A, NM_178000.2:c.578G>A, NM_178003.3:c.452G>A, NM_178003.2:c.452G>A, NM_001271832.2:c.491G>A, NM_001271832.1:c.491G>A, NM_001193397.2:c.473G>A, NM_001193397.1:c.473G>A, XM_011518834.3:c.728G>A, XM_011518834.2:c.728G>A, XM_011518834.1:c.728G>A, XM_011518836.3:c.641G>A, XM_011518836.2:c.641G>A, XM_011518836.1:c.641G>A, XM_011518838.3:c.641G>A, XM_011518838.2:c.641G>A, XM_011518838.1:c.641G>A, XM_047423559.1:c.833G>A, XM_047423560.1:c.833G>A, NM_178002.1:c.5G>A, NP_066954.2:p.Arg193Gln, NP_821068.1:p.Arg228Gln, NP_821067.1:p.Arg193Gln, NP_821070.1:p.Arg151Gln, NP_001258761.1:p.Arg164Gln, NP_001180326.1:p.Arg158Gln, XP_011517136.1:p.Arg243Gln, XP_011517138.1:p.Arg214Gln, XP_011517140.1:p.Arg214Gln, XP_047279515.1:p.Arg278Gln, XP_047279516.1:p.Arg278Gln

Select item 142345661120.

rs1423456611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:129136475 (GRCh38)
9:131898754 (GRCh37)
Canonical SPDI:: NC_000009.12:129136474:C:G
Gene:: PTPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.129136475C>G, NC_000009.11:g.131898754C>G, NG_029370.1:g.30527C>G, NM_021131.5:c.565C>G, NM_021131.4:c.565C>G, NM_178001.3:c.670C>G, NM_178001.2:c.670C>G, NM_178000.3:c.565C>G, NM_178000.2:c.565C>G, NM_178003.3:c.439C>G, NM_178003.2:c.439C>G, NM_001271832.2:c.478C>G, NM_001271832.1:c.478C>G, NM_001193397.2:c.460C>G, NM_001193397.1:c.460C>G, XM_011518834.3:c.715C>G, XM_011518834.2:c.715C>G, XM_011518834.1:c.715C>G, XM_011518836.3:c.628C>G, XM_011518836.2:c.628C>G, XM_011518836.1:c.628C>G, XM_011518838.3:c.628C>G, XM_011518838.2:c.628C>G, XM_011518838.1:c.628C>G, XM_047423559.1:c.820C>G, XM_047423560.1:c.820C>G, NM_178002.1:c.-9C>G, NP_066954.2:p.Leu189Val, NP_821068.1:p.Leu224Val, NP_821067.1:p.Leu189Val, NP_821070.1:p.Leu147Val, NP_001258761.1:p.Leu160Val, NP_001180326.1:p.Leu154Val, XP_011517136.1:p.Leu239Val, XP_011517138.1:p.Leu210Val, XP_011517140.1:p.Leu210Val, XP_047279515.1:p.Leu274Val, XP_047279516.1:p.Leu274Val

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