SNP Links for Protein (Select 973353072) - SNP

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Links from Protein

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Select item 14864131761.

rs1486413176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102786251 (GRCh38)
13:103438601 (GRCh37)
Canonical SPDI:: NC_000013.11:102786250:C:T
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102786251C>T, NC_000013.10:g.103438601C>T, NM_024089.3:c.1472G>A, NM_024089.2:c.1472G>A, NM_001318732.2:c.815G>A, NM_001318732.1:c.815G>A, XM_047430604.1:c.815G>A, NP_076994.2:p.Cys491Tyr, NP_001305661.1:p.Cys272Tyr, XP_047286560.1:p.Cys272Tyr

Select item 14821741112.

rs1482174111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:102789105 (GRCh38)
13:103441455 (GRCh37)
Canonical SPDI:: NC_000013.11:102789104:A:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000013.11:g.102789105A>C, NC_000013.10:g.103441455A>C, XM_005254075.4:c.1200T>G, XM_005254075.3:c.1200T>G, XM_005254075.2:c.1200T>G, XM_005254075.1:c.1200T>G, NM_024089.3:c.1200T>G, NM_024089.2:c.1200T>G, NM_001318732.2:c.543T>G, NM_001318732.1:c.543T>G, XM_047430604.1:c.543T>G, XP_005254132.1:p.Asn400Lys, NP_076994.2:p.Asn400Lys, NP_001305661.1:p.Asn181Lys, XP_047286560.1:p.Asn181Lys

Select item 14787554363.

rs1478755436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102791043 (GRCh38)
13:103443393 (GRCh37)
Canonical SPDI:: NC_000013.11:102791042:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102791043T>C, NC_000013.10:g.103443393T>C, XM_005254075.4:c.941A>G, XM_005254075.3:c.941A>G, XM_005254075.2:c.941A>G, XM_005254075.1:c.941A>G, NM_024089.3:c.941A>G, NM_024089.2:c.941A>G, NM_001318732.2:c.284A>G, NM_001318732.1:c.284A>G, XM_047430604.1:c.284A>G, XP_005254132.1:p.Lys314Arg, NP_076994.2:p.Lys314Arg, NP_001305661.1:p.Lys95Arg, XP_047286560.1:p.Lys95Arg

Select item 14784250714.

rs1478425071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102791420 (GRCh38)
13:103443770 (GRCh37)
Canonical SPDI:: NC_000013.11:102791419:G:A
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102791420G>A, NC_000013.10:g.103443770G>A, XM_005254075.4:c.683C>T, XM_005254075.3:c.683C>T, XM_005254075.2:c.683C>T, XM_005254075.1:c.683C>T, NM_024089.3:c.683C>T, NM_024089.2:c.683C>T, NM_001318732.2:c.26C>T, NM_001318732.1:c.26C>T, XM_047430604.1:c.26C>T, XP_005254132.1:p.Pro228Leu, NP_076994.2:p.Pro228Leu, NP_001305661.1:p.Pro9Leu, XP_047286560.1:p.Pro9Leu

Select item 14760792865.

rs1476079286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102786281 (GRCh38)
13:103438631 (GRCh37)
Canonical SPDI:: NC_000013.11:102786280:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000013.11:g.102786281T>C, NC_000013.10:g.103438631T>C, NM_024089.3:c.1442A>G, NM_024089.2:c.1442A>G, NM_001318732.2:c.785A>G, NM_001318732.1:c.785A>G, XM_047430604.1:c.785A>G, NP_076994.2:p.Glu481Gly, NP_001305661.1:p.Glu262Gly, XP_047286560.1:p.Glu262Gly

Select item 14757847586.

rs1475784758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:102791323 (GRCh38)
13:103443673 (GRCh37)
Canonical SPDI:: NC_000013.11:102791322:T:C,NC_000013.11:102791322:T:G
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.102791323T>C, NC_000013.11:g.102791323T>G, NC_000013.10:g.103443673T>C, NC_000013.10:g.103443673T>G, XM_005254075.4:c.780A>G, XM_005254075.4:c.780A>C, XM_005254075.3:c.780A>G, XM_005254075.3:c.780A>C, XM_005254075.2:c.780A>G, XM_005254075.2:c.780A>C, XM_005254075.1:c.780A>G, XM_005254075.1:c.780A>C, NM_024089.3:c.780A>G, NM_024089.3:c.780A>C, NM_024089.2:c.780A>G, NM_024089.2:c.780A>C, NM_001318732.2:c.123A>G, NM_001318732.2:c.123A>C, NM_001318732.1:c.123A>G, NM_001318732.1:c.123A>C, XM_047430604.1:c.123A>G, XM_047430604.1:c.123A>C

Select item 14739882177.

rs1473988217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102789204 (GRCh38)
13:103441554 (GRCh37)
Canonical SPDI:: NC_000013.11:102789203:A:G
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102789204A>G, NC_000013.10:g.103441554A>G, XM_005254075.4:c.1101T>C, XM_005254075.3:c.1101T>C, XM_005254075.2:c.1101T>C, XM_005254075.1:c.1101T>C, NM_024089.3:c.1101T>C, NM_024089.2:c.1101T>C, NM_001318732.2:c.444T>C, NM_001318732.1:c.444T>C, XM_047430604.1:c.444T>C

Select item 14732760368.

rs1473276036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102791125 (GRCh38)
13:103443475 (GRCh37)
Canonical SPDI:: NC_000013.11:102791124:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102791125T>C, NC_000013.10:g.103443475T>C, XM_005254075.4:c.859A>G, XM_005254075.3:c.859A>G, XM_005254075.2:c.859A>G, XM_005254075.1:c.859A>G, NM_024089.3:c.859A>G, NM_024089.2:c.859A>G, NM_001318732.2:c.202A>G, NM_001318732.1:c.202A>G, XM_047430604.1:c.202A>G, XP_005254132.1:p.Met287Val, NP_076994.2:p.Met287Val, NP_001305661.1:p.Met68Val, XP_047286560.1:p.Met68Val

Select item 14729593099.

rs1472959309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102791430 (GRCh38)
13:103443780 (GRCh37)
Canonical SPDI:: NC_000013.11:102791429:C:T
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.102791430C>T, NC_000013.10:g.103443780C>T, XM_005254075.4:c.673G>A, XM_005254075.3:c.673G>A, XM_005254075.2:c.673G>A, XM_005254075.1:c.673G>A, NM_024089.3:c.673G>A, NM_024089.2:c.673G>A, NM_001318732.2:c.16G>A, NM_001318732.1:c.16G>A, XM_047430604.1:c.16G>A, XP_005254132.1:p.Val225Met, NP_076994.2:p.Val225Met, NP_001305661.1:p.Val6Met, XP_047286560.1:p.Val6Met

Select item 147222316810.

rs1472223168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102789066 (GRCh38)
13:103441416 (GRCh37)
Canonical SPDI:: NC_000013.11:102789065:G:A
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102789066G>A, NC_000013.10:g.103441416G>A, XM_005254075.4:c.1239C>T, XM_005254075.3:c.1239C>T, XM_005254075.2:c.1239C>T, XM_005254075.1:c.1239C>T, NM_024089.3:c.1239C>T, NM_024089.2:c.1239C>T, NM_001318732.2:c.582C>T, NM_001318732.1:c.582C>T, XM_047430604.1:c.582C>T

Select item 147000178611.

rs1470001786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102789200 (GRCh38)
13:103441550 (GRCh37)
Canonical SPDI:: NC_000013.11:102789199:C:T
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.102789200C>T, NC_000013.10:g.103441550C>T, XM_005254075.4:c.1105G>A, XM_005254075.3:c.1105G>A, XM_005254075.2:c.1105G>A, XM_005254075.1:c.1105G>A, NM_024089.3:c.1105G>A, NM_024089.2:c.1105G>A, NM_001318732.2:c.448G>A, NM_001318732.1:c.448G>A, XM_047430604.1:c.448G>A, XP_005254132.1:p.Asp369Asn, NP_076994.2:p.Asp369Asn, NP_001305661.1:p.Asp150Asn, XP_047286560.1:p.Asp150Asn

Select item 146490234812.

rs1464902348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102789040 (GRCh38)
13:103441390 (GRCh37)
Canonical SPDI:: NC_000013.11:102789039:A:G
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102789040A>G, NC_000013.10:g.103441390A>G, XM_005254075.4:c.1265T>C, XM_005254075.3:c.1265T>C, XM_005254075.2:c.1265T>C, XM_005254075.1:c.1265T>C, NM_024089.3:c.1265T>C, NM_024089.2:c.1265T>C, NM_001318732.2:c.608T>C, NM_001318732.1:c.608T>C, XM_047430604.1:c.608T>C, XP_005254132.1:p.Leu422Pro, NP_076994.2:p.Leu422Pro, NP_001305661.1:p.Leu203Pro, XP_047286560.1:p.Leu203Pro

Select item 146383082013.

rs1463830820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:102791036 (GRCh38)
13:103443386 (GRCh37)
Canonical SPDI:: NC_000013.11:102791035:T:A
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102791036T>A, NC_000013.10:g.103443386T>A, XM_005254075.4:c.948A>T, XM_005254075.3:c.948A>T, XM_005254075.2:c.948A>T, XM_005254075.1:c.948A>T, NM_024089.3:c.948A>T, NM_024089.2:c.948A>T, NM_001318732.2:c.291A>T, NM_001318732.1:c.291A>T, XM_047430604.1:c.291A>T, XP_005254132.1:p.Arg316Ser, NP_076994.2:p.Arg316Ser, NP_001305661.1:p.Arg97Ser, XP_047286560.1:p.Arg97Ser

Select item 146248219914.

rs1462482199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102791107 (GRCh38)
13:103443457 (GRCh37)
Canonical SPDI:: NC_000013.11:102791106:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102791107T>C, NC_000013.10:g.103443457T>C, XM_005254075.4:c.877A>G, XM_005254075.3:c.877A>G, XM_005254075.2:c.877A>G, XM_005254075.1:c.877A>G, NM_024089.3:c.877A>G, NM_024089.2:c.877A>G, NM_001318732.2:c.220A>G, NM_001318732.1:c.220A>G, XM_047430604.1:c.220A>G, XP_005254132.1:p.Asn293Asp, NP_076994.2:p.Asn293Asp, NP_001305661.1:p.Asn74Asp, XP_047286560.1:p.Asn74Asp

Select item 145188663715.

rs1451886637 [Homo sapiens]

Variant type:: DEL
Alleles:: TGT>- [Show Flanks]
Chromosome:: 13:102786275 (GRCh38)
13:103438625 (GRCh37)
Canonical SPDI:: NC_000013.11:102786274:TGT:
Gene:: POGLUT2 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.102786275_102786277del, NC_000013.10:g.103438625_103438627del, NM_024089.3:c.1446_1448del, NM_024089.2:c.1446_1448del, NM_001318732.2:c.789_791del, NM_001318732.1:c.789_791del, XM_047430604.1:c.789_791del, NP_076994.2:p.Gln483del, NP_001305661.1:p.Gln264del, XP_047286560.1:p.Gln264del

Select item 145169347216.

rs1451693472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102791012 (GRCh38)
13:103443362 (GRCh37)
Canonical SPDI:: NC_000013.11:102791011:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102791012T>C, NC_000013.10:g.103443362T>C, XM_005254075.4:c.972A>G, XM_005254075.3:c.972A>G, XM_005254075.2:c.972A>G, XM_005254075.1:c.972A>G, NM_024089.3:c.972A>G, NM_024089.2:c.972A>G, NM_001318732.2:c.315A>G, NM_001318732.1:c.315A>G, XM_047430604.1:c.315A>G

Select item 145095239017.

rs1450952390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102787862 (GRCh38)
13:103440212 (GRCh37)
Canonical SPDI:: NC_000013.11:102787861:A:G
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.102787862A>G, NC_000013.10:g.103440212A>G, XM_005254075.4:c.1355T>C, XM_005254075.3:c.1355T>C, XM_005254075.2:c.1355T>C, XM_005254075.1:c.1355T>C, NM_024089.3:c.1355T>C, NM_024089.2:c.1355T>C, NM_001318732.2:c.698T>C, NM_001318732.1:c.698T>C, XM_047430604.1:c.698T>C, XP_005254132.1:p.Ile452Thr, NP_076994.2:p.Ile452Thr, NP_001305661.1:p.Ile233Thr, XP_047286560.1:p.Ile233Thr

Select item 143720050218.

rs1437200502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102790986 (GRCh38)
13:103443336 (GRCh37)
Canonical SPDI:: NC_000013.11:102790985:G:A
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102790986G>A, NC_000013.10:g.103443336G>A, XM_005254075.4:c.998C>T, XM_005254075.3:c.998C>T, XM_005254075.2:c.998C>T, XM_005254075.1:c.998C>T, NM_024089.3:c.998C>T, NM_024089.2:c.998C>T, NM_001318732.2:c.341C>T, NM_001318732.1:c.341C>T, XM_047430604.1:c.341C>T, XP_005254132.1:p.Ala333Val, NP_076994.2:p.Ala333Val, NP_001305661.1:p.Ala114Val, XP_047286560.1:p.Ala114Val

Select item 142912214219.

rs1429122142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102786329 (GRCh38)
13:103438679 (GRCh37)
Canonical SPDI:: NC_000013.11:102786328:T:C
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.102786329T>C, NC_000013.10:g.103438679T>C, NM_024089.3:c.1394A>G, NM_024089.2:c.1394A>G, NM_001318732.2:c.737A>G, NM_001318732.1:c.737A>G, XM_047430604.1:c.737A>G, NP_076994.2:p.Asn465Ser, NP_001305661.1:p.Asn246Ser, XP_047286560.1:p.Asn246Ser

Select item 142653412820.

rs1426534128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102791119 (GRCh38)
13:103443469 (GRCh37)
Canonical SPDI:: NC_000013.11:102791118:A:G
Gene:: POGLUT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102791119A>G, NC_000013.10:g.103443469A>G, XM_005254075.4:c.865T>C, XM_005254075.3:c.865T>C, XM_005254075.2:c.865T>C, XM_005254075.1:c.865T>C, NM_024089.3:c.865T>C, NM_024089.2:c.865T>C, NM_001318732.2:c.208T>C, NM_001318732.1:c.208T>C, XM_047430604.1:c.208T>C, XP_005254132.1:p.Ser289Pro, NP_076994.2:p.Ser289Pro, NP_001305661.1:p.Ser70Pro, XP_047286560.1:p.Ser70Pro

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