SNP Links for Protein (Select 50897294) - SNP

Links from Protein

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Select item 14899356111.

rs1489935611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43297361 (GRCh38)
8:43152504 (GRCh37)
Canonical SPDI:: NC_000008.11:43297360:T:C
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43297361T>C, NC_000008.10:g.43152504T>C, NM_001005365.2:c.490T>C, XM_024447146.1:c.490T>C, NM_001002920.1:c.490T>C, XM_047421756.1:c.490T>C, NP_001005365.2:p.Tyr164His, XP_024302914.1:p.Tyr164His, NP_001002920.1:p.Tyr164His, XP_047277712.1:p.Tyr164His

Select item 14894223792.

rs1489422379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43342289 (GRCh38)
8:43197432 (GRCh37)
Canonical SPDI:: NC_000008.11:43342288:T:C
Gene:: POTEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43342289T>C, NC_000008.10:g.43197432T>C, NM_001005365.2:c.1321T>C, NM_001002920.1:c.1183T>C, NP_001005365.2:p.Phe441Leu, NP_001002920.1:p.Phe395Leu

Select item 14856695213.

rs1485669521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:43300537 (GRCh38)
8:43155680 (GRCh37)
Canonical SPDI:: NC_000008.11:43300536:T:A
Gene:: POTEA (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.43300537T>A, NC_000008.10:g.43155680T>A, NM_001005365.2:c.608T>A, XM_024447146.1:c.608T>A, NM_001002920.1:c.608T>A, XM_047421756.1:c.608T>A, NP_001005365.2:p.Leu203Ter, XP_024302914.1:p.Leu203Ter, NP_001002920.1:p.Leu203Ter, XP_047277712.1:p.Leu203Ter

Select item 14841777744.

rs1484177774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43342306 (GRCh38)
8:43197449 (GRCh37)
Canonical SPDI:: NC_000008.11:43342305:A:G
Gene:: POTEA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.43342306A>G, NC_000008.10:g.43197449A>G, NM_001005365.2:c.1338A>G, NM_001002920.1:c.1200A>G

Select item 14838453225.

rs1483845322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43300584 (GRCh38)
8:43155727 (GRCh37)
Canonical SPDI:: NC_000008.11:43300583:A:T
Gene:: POTEA (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43300584A>T, NC_000008.10:g.43155727A>T, NM_001005365.2:c.655A>T, XM_024447146.1:c.655A>T, NM_001002920.1:c.655A>T, XM_047421756.1:c.655A>T, NP_001005365.2:p.Lys219Ter, XP_024302914.1:p.Lys219Ter, NP_001002920.1:p.Lys219Ter, XP_047277712.1:p.Lys219Ter

Select item 14834894566.

rs1483489456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43292628 (GRCh38)
8:43147771 (GRCh37)
Canonical SPDI:: NC_000008.11:43292627:C:A,NC_000008.11:43292627:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.43292628C>A, NC_000008.11:g.43292628C>T, NC_000008.10:g.43147771C>A, NC_000008.10:g.43147771C>T, NM_001005365.2:c.144C>A, NM_001005365.2:c.144C>T, XM_024447146.1:c.144C>A, XM_024447146.1:c.144C>T, NM_001002920.1:c.144C>A, NM_001002920.1:c.144C>T, XM_047421756.1:c.144C>A, XM_047421756.1:c.144C>T, NP_001005365.2:p.Asp48Glu, XP_024302914.1:p.Asp48Glu, NP_001002920.1:p.Asp48Glu, XP_047277712.1:p.Asp48Glu

Select item 14828329527.

rs1482832952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43297317 (GRCh38)
8:43152460 (GRCh37)
Canonical SPDI:: NC_000008.11:43297316:T:C
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43297317T>C, NC_000008.10:g.43152460T>C, NM_001005365.2:c.446T>C, XM_024447146.1:c.446T>C, NM_001002920.1:c.446T>C, XM_047421756.1:c.446T>C, NP_001005365.2:p.Leu149Ser, XP_024302914.1:p.Leu149Ser, NP_001002920.1:p.Leu149Ser, XP_047277712.1:p.Leu149Ser

Select item 14774880478.

rs1477488047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43297441 (GRCh38)
8:43152584 (GRCh37)
Canonical SPDI:: NC_000008.11:43297440:C:A,NC_000008.11:43297440:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.43297441C>A, NC_000008.11:g.43297441C>T, NC_000008.10:g.43152584C>A, NC_000008.10:g.43152584C>T, NM_001005365.2:c.570C>A, NM_001005365.2:c.570C>T, XM_024447146.1:c.570C>A, XM_024447146.1:c.570C>T, NM_001002920.1:c.570C>A, NM_001002920.1:c.570C>T, XM_047421756.1:c.570C>A, XM_047421756.1:c.570C>T, NP_001005365.2:p.Asp190Glu, XP_024302914.1:p.Asp190Glu, NP_001002920.1:p.Asp190Glu, XP_047277712.1:p.Asp190Glu

Select item 14764724629.

rs1476472462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:43292521 (GRCh38)
8:43147664 (GRCh37)
Canonical SPDI:: NC_000008.11:43292520:C:G
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43292521C>G, NC_000008.10:g.43147664C>G, NM_001005365.2:c.37C>G, XM_024447146.1:c.37C>G, NM_001002920.1:c.37C>G, XM_047421756.1:c.37C>G, NP_001005365.2:p.Pro13Ala, XP_024302914.1:p.Pro13Ala, NP_001002920.1:p.Pro13Ala, XP_047277712.1:p.Pro13Ala

Select item 147424435110.

rs1474244351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43318594 (GRCh38)
8:43173737 (GRCh37)
Canonical SPDI:: NC_000008.11:43318593:C:A,NC_000008.11:43318593:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.43318594C>A, NC_000008.11:g.43318594C>T, NC_000008.10:g.43173737C>A, NC_000008.10:g.43173737C>T, NM_001005365.2:c.1159C>A, NM_001005365.2:c.1159C>T, XM_024447146.1:c.1159C>A, XM_024447146.1:c.1159C>T, NM_001002920.1:c.1021C>A, NM_001002920.1:c.1021C>T, NP_001005365.2:p.Pro387Thr, NP_001005365.2:p.Pro387Ser, XP_024302914.1:p.Pro387Thr, XP_024302914.1:p.Pro387Ser, NP_001002920.1:p.Pro341Thr, NP_001002920.1:p.Pro341Ser

Select item 147305744211.

rs1473057442 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCCCTGCTGCAGGGGAAGCGGC>- [Show Flanks]
Chromosome:: 8:43292578 (GRCh38)
8:43147721 (GRCh37)
Canonical SPDI:: NC_000008.11:43292575:GCTTCCCCTGCTGCAGGGGAAGCGGC:GC
Gene:: POTEA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43292578_43292601del, NC_000008.10:g.43147721_43147744del, NM_001005365.2:c.94_117del, XM_024447146.1:c.94_117del, NM_001002920.1:c.94_117del, XM_047421756.1:c.94_117del, NP_001005365.2:p.Phe32_Gly39del, XP_024302914.1:p.Phe32_Gly39del, NP_001002920.1:p.Phe32_Gly39del, XP_047277712.1:p.Phe32_Gly39del

Select item 147177788412.

rs1471777884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43300526 (GRCh38)
8:43155669 (GRCh37)
Canonical SPDI:: NC_000008.11:43300525:C:T
Gene:: POTEA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000008.11:g.43300526C>T, NC_000008.10:g.43155669C>T, NM_001005365.2:c.597C>T, XM_024447146.1:c.597C>T, NM_001002920.1:c.597C>T, XM_047421756.1:c.597C>T

Select item 146884618813.

rs1468846188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:43297090 (GRCh38)
8:43152233 (GRCh37)
Canonical SPDI:: NC_000008.11:43297089:C:G
Gene:: POTEA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43297090C>G, NC_000008.10:g.43152233C>G, NM_001005365.2:c.370C>G, XM_024447146.1:c.370C>G, NM_001002920.1:c.370C>G, XM_047421756.1:c.370C>G, NP_001005365.2:p.Gln124Glu, XP_024302914.1:p.Gln124Glu, NP_001002920.1:p.Gln124Glu, XP_047277712.1:p.Gln124Glu

Select item 146805075714.

rs1468050757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:43317357 (GRCh38)
8:43172500 (GRCh37)
Canonical SPDI:: NC_000008.11:43317356:G:A,NC_000008.11:43317356:G:C
Gene:: POTEA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43317357G>A, NC_000008.11:g.43317357G>C, NC_000008.10:g.43172500G>A, NC_000008.10:g.43172500G>C, NM_001005365.2:c.979G>A, NM_001005365.2:c.979G>C, XM_024447146.1:c.979G>A, XM_024447146.1:c.979G>C, NM_001002920.1:c.841G>A, NM_001002920.1:c.841G>C, XM_047421756.1:c.908G>A, XM_047421756.1:c.908G>C, NP_001005365.2:p.Val327Met, NP_001005365.2:p.Val327Leu, XP_024302914.1:p.Val327Met, XP_024302914.1:p.Val327Leu, NP_001002920.1:p.Val281Met, NP_001002920.1:p.Val281Leu, XP_047277712.1:p.Ser303Asn, XP_047277712.1:p.Ser303Thr

Select item 146783508215.

rs1467835082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43315954 (GRCh38)
8:43171097 (GRCh37)
Canonical SPDI:: NC_000008.11:43315953:A:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000025/6 (GnomAD_exomes)
T=0.000057/15 (TOPMED)
T=0.000093/13 (GnomAD)
HGVS:: NC_000008.11:g.43315954A>T, NC_000008.10:g.43171097A>T, NM_001005365.2:c.968A>T, XM_024447146.1:c.968A>T, NM_001002920.1:c.830A>T, NP_001005365.2:p.Gln323Leu, XP_024302914.1:p.Gln323Leu, NP_001002920.1:p.Gln277Leu

Select item 146647951116.

rs1466479511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43318607 (GRCh38)
8:43173750 (GRCh37)
Canonical SPDI:: NC_000008.11:43318606:T:C
Gene:: POTEA (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43318607T>C, NC_000008.10:g.43173750T>C, NM_001005365.2:c.1172T>C, XM_024447146.1:c.1172T>C, NM_001002920.1:c.1034T>C, NP_001005365.2:p.Ile391Thr, XP_024302914.1:p.Ile391Thr, NP_001002920.1:p.Ile345Thr

Select item 145812487717.

rs1458124877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:43315914 (GRCh38)
8:43171057 (GRCh37)
Canonical SPDI:: NC_000008.11:43315913:G:T
Gene:: POTEA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000008.11:g.43315914G>T, NC_000008.10:g.43171057G>T, NM_001005365.2:c.928G>T, XM_024447146.1:c.928G>T, NM_001002920.1:c.790G>T, NP_001005365.2:p.Glu310Ter, XP_024302914.1:p.Glu310Ter, NP_001002920.1:p.Glu264Ter

Select item 145789046418.

rs1457890464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:43300538 (GRCh38)
8:43155681 (GRCh37)
Canonical SPDI:: NC_000008.11:43300537:G:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43300538G>T, NC_000008.10:g.43155681G>T, NM_001005365.2:c.609G>T, XM_024447146.1:c.609G>T, NM_001002920.1:c.609G>T, XM_047421756.1:c.609G>T, NP_001005365.2:p.Leu203Phe, XP_024302914.1:p.Leu203Phe, NP_001002920.1:p.Leu203Phe, XP_047277712.1:p.Leu203Phe

Select item 145465750519.

rs1454657505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:43318544 (GRCh38)
8:43173687 (GRCh37)
Canonical SPDI:: NC_000008.11:43318543:G:T
Gene:: POTEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,downstream_transcript_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_000008.11:g.43318544G>T, NC_000008.10:g.43173687G>T, NM_001005365.2:c.1109G>T, XM_024447146.1:c.1109G>T, NM_001002920.1:c.971G>T, NP_001005365.2:p.Gly370Val, XP_024302914.1:p.Gly370Val, NP_001002920.1:p.Gly324Val

Select item 145459111720.

rs1454591117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:43292613 (GRCh38)
8:43147756 (GRCh37)
Canonical SPDI:: NC_000008.11:43292612:G:C
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.43292613G>C, NC_000008.10:g.43147756G>C, NM_001005365.2:c.129G>C, XM_024447146.1:c.129G>C, NM_001002920.1:c.129G>C, XM_047421756.1:c.129G>C, NP_001005365.2:p.Met43Ile, XP_024302914.1:p.Met43Ile, NP_001002920.1:p.Met43Ile, XP_047277712.1:p.Met43Ile

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