SNP Links for Protein (Select 98986331) - SNP

Select item 14893536291.

rs1489353629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:72320482 (GRCh38)
5:71616309 (GRCh37)
Canonical SPDI:: NC_000005.10:72320481:T:A
Gene:: MRPS27 (Varview), PTCD2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72320482T>A, NC_000005.9:g.71616309T>A, XR_241790.6:n.110T>A, XR_241790.5:n.110T>A, XR_241790.4:n.110T>A, XR_241790.3:n.110T>A, XR_241790.2:n.110T>A, XR_241790.1:n.110T>A, NM_024754.5:c.100T>A, NM_024754.4:c.100T>A, NM_024754.3:c.100T>A, XM_005248601.3:c.100T>A, XM_005248601.2:c.100T>A, XM_005248601.1:c.100T>A, XR_948298.3:n.110T>A, XR_948298.2:n.110T>A, XR_948298.1:n.110T>A, NM_001284405.2:c.-392T>A, NM_001284405.1:c.-392T>A, NM_001284404.2:c.-220T>A, NM_001284404.1:c.-220T>A, NM_001284403.2:c.100T>A, NM_001284403.1:c.100T>A, XR_007058635.1:n.110T>A, NP_079030.3:p.Ser34Thr, XP_005248658.1:p.Ser34Thr, NP_001271332.1:p.Ser34Thr

Select item 14891530012.

rs1489153001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:72331291 (GRCh38)
5:71627118 (GRCh37)
Canonical SPDI:: NC_000005.10:72331290:G:A,NC_000005.10:72331290:G:C,NC_000005.10:72331290:G:T
Gene:: PTCD2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.72331291G>A, NC_000005.10:g.72331291G>C, NC_000005.10:g.72331291G>T, NC_000005.9:g.71627118G>A, NC_000005.9:g.71627118G>C, NC_000005.9:g.71627118G>T, XR_241790.6:n.394G>A, XR_241790.6:n.394G>C, XR_241790.6:n.394G>T, XR_241790.5:n.394G>A, XR_241790.5:n.394G>C, XR_241790.5:n.394G>T, XR_241790.4:n.394G>A, XR_241790.4:n.394G>C, XR_241790.4:n.394G>T, XR_241790.3:n.394G>A, XR_241790.3:n.394G>C, XR_241790.3:n.394G>T, XR_241790.2:n.394G>A, XR_241790.2:n.394G>C, XR_241790.2:n.394G>T, XR_241790.1:n.394G>A, XR_241790.1:n.394G>C, XR_241790.1:n.394G>T, NM_024754.5:c.384G>A, NM_024754.5:c.384G>C, NM_024754.5:c.384G>T, NM_024754.4:c.384G>A, NM_024754.4:c.384G>C, NM_024754.4:c.384G>T, NM_024754.3:c.384G>A, NM_024754.3:c.384G>C, NM_024754.3:c.384G>T, XM_005248601.3:c.384G>A, XM_005248601.3:c.384G>C, XM_005248601.3:c.384G>T, XM_005248601.2:c.384G>A, XM_005248601.2:c.384G>C, XM_005248601.2:c.384G>T, XM_005248601.1:c.384G>A, XM_005248601.1:c.384G>C, XM_005248601.1:c.384G>T, XR_948298.3:n.394G>A, XR_948298.3:n.394G>C, XR_948298.3:n.394G>T, XR_948298.2:n.394G>A, XR_948298.2:n.394G>C, XR_948298.2:n.394G>T, XR_948298.1:n.394G>A, XR_948298.1:n.394G>C, XR_948298.1:n.394G>T, NM_001284405.2:c.-108G>A, NM_001284405.2:c.-108G>C, NM_001284405.2:c.-108G>T, NM_001284405.1:c.-108G>A, NM_001284405.1:c.-108G>C, NM_001284405.1:c.-108G>T, XM_047417743.1:c.-73G>A, XM_047417743.1:c.-73G>C, XM_047417743.1:c.-73G>T, XM_047417745.1:c.-108G>A, XM_047417745.1:c.-108G>C, XM_047417745.1:c.-108G>T, XR_007058635.1:n.394G>A, XR_007058635.1:n.394G>C, XR_007058635.1:n.394G>T

Select item 14880874943.

rs1488087494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72326658 (GRCh38)
5:71622485 (GRCh37)
Canonical SPDI:: NC_000005.10:72326657:C:T
Gene:: PTCD2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72326658C>T, NC_000005.9:g.71622485C>T, XR_241790.6:n.277C>T, XR_241790.5:n.277C>T, XR_241790.4:n.277C>T, XR_241790.3:n.277C>T, XR_241790.2:n.277C>T, XR_241790.1:n.277C>T, NM_024754.5:c.267C>T, NM_024754.4:c.267C>T, NM_024754.3:c.267C>T, XM_005248601.3:c.267C>T, XM_005248601.2:c.267C>T, XM_005248601.1:c.267C>T, XR_948298.3:n.277C>T, XR_948298.2:n.277C>T, XR_948298.1:n.277C>T, NM_001284405.2:c.-225C>T, NM_001284405.1:c.-225C>T, NM_001284404.2:c.-53C>T, NM_001284404.1:c.-53C>T, XR_007058635.1:n.277C>T

Select item 14829773014.

rs1482977301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72343012 (GRCh38)
5:71638839 (GRCh37)
Canonical SPDI:: NC_000005.10:72343011:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72343012A>G, NC_000005.9:g.71638839A>G, XR_241790.6:n.814A>G, XR_241790.5:n.814A>G, XR_241790.4:n.814A>G, XR_241790.3:n.814A>G, XR_241790.2:n.814A>G, XR_241790.1:n.814A>G, NM_024754.5:c.804A>G, NM_024754.4:c.804A>G, NM_024754.3:c.804A>G, XM_005248601.3:c.804A>G, XM_005248601.2:c.804A>G, XM_005248601.1:c.804A>G, XR_948298.3:n.814A>G, XR_948298.2:n.814A>G, XR_948298.1:n.814A>G, NM_001284405.2:c.234A>G, NM_001284405.1:c.234A>G, NM_001284404.2:c.288A>G, NM_001284404.1:c.288A>G, NM_001284403.2:c.477A>G, NM_001284403.1:c.477A>G, XM_047417743.1:c.348A>G, XM_047417745.1:c.234A>G, XM_047417744.1:c.291A>G, XR_007058635.1:n.814A>G

Select item 14815043605.

rs1481504360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72338723 (GRCh38)
5:71634550 (GRCh37)
Canonical SPDI:: NC_000005.10:72338722:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72338723A>G, NC_000005.9:g.71634550A>G, XR_241790.6:n.751A>G, XR_241790.5:n.751A>G, XR_241790.4:n.751A>G, XR_241790.3:n.751A>G, XR_241790.2:n.751A>G, XR_241790.1:n.751A>G, NM_024754.5:c.741A>G, NM_024754.4:c.741A>G, NM_024754.3:c.741A>G, XM_005248601.3:c.741A>G, XM_005248601.2:c.741A>G, XM_005248601.1:c.741A>G, XR_948298.3:n.751A>G, XR_948298.2:n.751A>G, XR_948298.1:n.751A>G, NM_001284405.2:c.171A>G, NM_001284405.1:c.171A>G, NM_001284404.2:c.225A>G, NM_001284404.1:c.225A>G, NM_001284403.2:c.414A>G, NM_001284403.1:c.414A>G, XM_047417743.1:c.285A>G, XM_047417745.1:c.171A>G, XM_047417744.1:c.228A>G, XR_007058635.1:n.751A>G

Select item 14814832776.

rs1481483277 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:72358388 (GRCh38)
5:71654216 (GRCh37)
Canonical SPDI:: NC_000005.10:72358388:A:AA
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72358389dup, NC_000005.9:g.71654216dup, XR_241790.6:n.1139dup, XR_241790.5:n.1139dup, XR_241790.4:n.1139dup, XR_241790.3:n.1139dup, XR_241790.2:n.1139dup, XR_241790.1:n.1139dup, NM_024754.5:c.1129dup, NM_024754.4:c.1129dup, NM_024754.3:c.1129dup, XM_005248601.3:c.1015dup, XM_005248601.2:c.1015dup, XM_005248601.1:c.1015dup, XR_948298.3:n.1139dup, XR_948298.2:n.1139dup, XR_948298.1:n.1139dup, NM_001284405.2:c.559dup, NM_001284405.1:c.559dup, NM_001284404.2:c.613dup, NM_001284404.1:c.613dup, NM_001284403.2:c.802dup, NM_001284403.1:c.802dup, XM_047417743.1:c.673dup, XM_047417745.1:c.559dup, XM_047417744.1:c.616dup, XR_007058635.1:n.1025dup, NP_079030.3:p.Thr377fs, XP_005248658.1:p.Thr339fs, NP_001271334.1:p.Thr187fs, NP_001271333.1:p.Thr205fs, NP_001271332.1:p.Thr268fs, XP_047273699.1:p.Thr225fs, XP_047273701.1:p.Thr187fs, XP_047273700.1:p.Thr206fs

Select item 14805209687.

rs1480520968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:72352696 (GRCh38)
5:71648523 (GRCh37)
Canonical SPDI:: NC_000005.10:72352695:A:C
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72352696A>C, NC_000005.9:g.71648523A>C, XR_241790.6:n.894A>C, XR_241790.5:n.894A>C, XR_241790.4:n.894A>C, XR_241790.3:n.894A>C, XR_241790.2:n.894A>C, XR_241790.1:n.894A>C, NM_024754.5:c.884A>C, NM_024754.4:c.884A>C, NM_024754.3:c.884A>C, XR_948298.3:n.894A>C, XR_948298.2:n.894A>C, XR_948298.1:n.894A>C, NM_001284405.2:c.314A>C, NM_001284405.1:c.314A>C, NM_001284404.2:c.368A>C, NM_001284404.1:c.368A>C, NM_001284403.2:c.557A>C, NM_001284403.1:c.557A>C, XM_047417743.1:c.428A>C, XM_047417745.1:c.314A>C, XM_047417744.1:c.371A>C, NP_079030.3:p.Asn295Thr, NP_001271334.1:p.Asn105Thr, NP_001271333.1:p.Asn123Thr, NP_001271332.1:p.Asn186Thr, XP_047273699.1:p.Asn143Thr, XP_047273701.1:p.Asn105Thr, XP_047273700.1:p.Asn124Thr

Select item 14794881548.

rs1479488154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72358339 (GRCh38)
5:71654166 (GRCh37)
Canonical SPDI:: NC_000005.10:72358338:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72358339A>G, NC_000005.9:g.71654166A>G, XR_241790.6:n.1089A>G, XR_241790.5:n.1089A>G, XR_241790.4:n.1089A>G, XR_241790.3:n.1089A>G, XR_241790.2:n.1089A>G, XR_241790.1:n.1089A>G, NM_024754.5:c.1079A>G, NM_024754.4:c.1079A>G, NM_024754.3:c.1079A>G, XM_005248601.3:c.965A>G, XM_005248601.2:c.965A>G, XM_005248601.1:c.965A>G, XR_948298.3:n.1089A>G, XR_948298.2:n.1089A>G, XR_948298.1:n.1089A>G, NM_001284405.2:c.509A>G, NM_001284405.1:c.509A>G, NM_001284404.2:c.563A>G, NM_001284404.1:c.563A>G, NM_001284403.2:c.752A>G, NM_001284403.1:c.752A>G, XM_047417743.1:c.623A>G, XM_047417745.1:c.509A>G, XM_047417744.1:c.566A>G, XR_007058635.1:n.975A>G, NP_079030.3:p.Asp360Gly, XP_005248658.1:p.Asp322Gly, NP_001271334.1:p.Asp170Gly, NP_001271333.1:p.Asp188Gly, NP_001271332.1:p.Asp251Gly, XP_047273699.1:p.Asp208Gly, XP_047273701.1:p.Asp170Gly, XP_047273700.1:p.Asp189Gly

Select item 14785695489.

rs1478569548 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:72335081 (GRCh38)
5:71630908 (GRCh37)
Canonical SPDI:: NC_000005.10:72335080:AAA:AA
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.72335083del, NC_000005.9:g.71630910del, XR_241790.6:n.544del, XR_241790.5:n.544del, XR_241790.4:n.544del, XR_241790.3:n.544del, XR_241790.2:n.544del, XR_241790.1:n.544del, NM_024754.5:c.534del, NM_024754.4:c.534del, NM_024754.3:c.534del, XM_005248601.3:c.534del, XM_005248601.2:c.534del, XM_005248601.1:c.534del, XR_948298.3:n.544del, XR_948298.2:n.544del, XR_948298.1:n.544del, XM_047417743.1:c.78del, XM_047417744.1:c.21del, XR_007058635.1:n.544del, NP_079030.3:p.Gly179fs, XP_005248658.1:p.Gly179fs, XP_047273699.1:p.Gly27fs, XP_047273700.1:p.Gly8fs

Select item 146866255410.

rs1468662554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72320484 (GRCh38)
5:71616311 (GRCh37)
Canonical SPDI:: NC_000005.10:72320483:T:C
Gene:: MRPS27 (Varview), PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72320484T>C, NC_000005.9:g.71616311T>C, XR_241790.6:n.112T>C, XR_241790.5:n.112T>C, XR_241790.4:n.112T>C, XR_241790.3:n.112T>C, XR_241790.2:n.112T>C, XR_241790.1:n.112T>C, NM_024754.5:c.102T>C, NM_024754.4:c.102T>C, NM_024754.3:c.102T>C, XM_005248601.3:c.102T>C, XM_005248601.2:c.102T>C, XM_005248601.1:c.102T>C, XR_948298.3:n.112T>C, XR_948298.2:n.112T>C, XR_948298.1:n.112T>C, NM_001284405.2:c.-390T>C, NM_001284405.1:c.-390T>C, NM_001284404.2:c.-218T>C, NM_001284404.1:c.-218T>C, NM_001284403.2:c.102T>C, NM_001284403.1:c.102T>C, XR_007058635.1:n.112T>C

Select item 146617994011.

rs1466179940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72326681 (GRCh38)
5:71622508 (GRCh37)
Canonical SPDI:: NC_000005.10:72326680:C:T
Gene:: PTCD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.72326681C>T, NC_000005.9:g.71622508C>T, XR_241790.6:n.300C>T, XR_241790.5:n.300C>T, XR_241790.4:n.300C>T, XR_241790.3:n.300C>T, XR_241790.2:n.300C>T, XR_241790.1:n.300C>T, NM_024754.5:c.290C>T, NM_024754.4:c.290C>T, NM_024754.3:c.290C>T, XM_005248601.3:c.290C>T, XM_005248601.2:c.290C>T, XM_005248601.1:c.290C>T, XR_948298.3:n.300C>T, XR_948298.2:n.300C>T, XR_948298.1:n.300C>T, NM_001284405.2:c.-202C>T, NM_001284405.1:c.-202C>T, NM_001284404.2:c.-30C>T, NM_001284404.1:c.-30C>T, XM_047417744.1:c.-106C>T, XR_007058635.1:n.300C>T, NP_079030.3:p.Thr97Ile, XP_005248658.1:p.Thr97Ile

Select item 146295815412.

rs1462958154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72358395 (GRCh38)
5:71654222 (GRCh37)
Canonical SPDI:: NC_000005.10:72358394:C:T
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72358395C>T, NC_000005.9:g.71654222C>T, XR_241790.6:n.1145C>T, XR_241790.5:n.1145C>T, XR_241790.4:n.1145C>T, XR_241790.3:n.1145C>T, XR_241790.2:n.1145C>T, XR_241790.1:n.1145C>T, NM_024754.5:c.1135C>T, NM_024754.4:c.1135C>T, NM_024754.3:c.1135C>T, XM_005248601.3:c.1021C>T, XM_005248601.2:c.1021C>T, XM_005248601.1:c.1021C>T, XR_948298.3:n.1145C>T, XR_948298.2:n.1145C>T, XR_948298.1:n.1145C>T, NM_001284405.2:c.565C>T, NM_001284405.1:c.565C>T, NM_001284404.2:c.619C>T, NM_001284404.1:c.619C>T, NM_001284403.2:c.808C>T, NM_001284403.1:c.808C>T, XM_047417743.1:c.679C>T, XM_047417745.1:c.565C>T, XM_047417744.1:c.622C>T, XR_007058635.1:n.1031C>T, NP_079030.3:p.Gln379Ter, XP_005248658.1:p.Gln341Ter, NP_001271334.1:p.Gln189Ter, NP_001271333.1:p.Gln207Ter, NP_001271332.1:p.Gln270Ter, XP_047273699.1:p.Gln227Ter, XP_047273701.1:p.Gln189Ter, XP_047273700.1:p.Gln208Ter

Select item 146290981213.

rs1462909812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72338678 (GRCh38)
5:71634505 (GRCh37)
Canonical SPDI:: NC_000005.10:72338677:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72338678A>G, NC_000005.9:g.71634505A>G, XR_241790.6:n.706A>G, XR_241790.5:n.706A>G, XR_241790.4:n.706A>G, XR_241790.3:n.706A>G, XR_241790.2:n.706A>G, XR_241790.1:n.706A>G, NM_024754.5:c.696A>G, NM_024754.4:c.696A>G, NM_024754.3:c.696A>G, XM_005248601.3:c.696A>G, XM_005248601.2:c.696A>G, XM_005248601.1:c.696A>G, XR_948298.3:n.706A>G, XR_948298.2:n.706A>G, XR_948298.1:n.706A>G, NM_001284405.2:c.126A>G, NM_001284405.1:c.126A>G, NM_001284404.2:c.180A>G, NM_001284404.1:c.180A>G, NM_001284403.2:c.369A>G, NM_001284403.1:c.369A>G, XM_047417743.1:c.240A>G, XM_047417745.1:c.126A>G, XM_047417744.1:c.183A>G, XR_007058635.1:n.706A>G

Select item 146254462314.

rs1462544623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:72358312 (GRCh38)
5:71654139 (GRCh37)
Canonical SPDI:: NC_000005.10:72358311:A:C,NC_000005.10:72358311:A:T
Gene:: PTCD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72358312A>C, NC_000005.10:g.72358312A>T, NC_000005.9:g.71654139A>C, NC_000005.9:g.71654139A>T, XR_241790.6:n.1062A>C, XR_241790.6:n.1062A>T, XR_241790.5:n.1062A>C, XR_241790.5:n.1062A>T, XR_241790.4:n.1062A>C, XR_241790.4:n.1062A>T, XR_241790.3:n.1062A>C, XR_241790.3:n.1062A>T, XR_241790.2:n.1062A>C, XR_241790.2:n.1062A>T, XR_241790.1:n.1062A>C, XR_241790.1:n.1062A>T, NM_024754.5:c.1052A>C, NM_024754.5:c.1052A>T, NM_024754.4:c.1052A>C, NM_024754.4:c.1052A>T, NM_024754.3:c.1052A>C, NM_024754.3:c.1052A>T, XM_005248601.3:c.938A>C, XM_005248601.3:c.938A>T, XM_005248601.2:c.938A>C, XM_005248601.2:c.938A>T, XM_005248601.1:c.938A>C, XM_005248601.1:c.938A>T, XR_948298.3:n.1062A>C, XR_948298.3:n.1062A>T, XR_948298.2:n.1062A>C, XR_948298.2:n.1062A>T, XR_948298.1:n.1062A>C, XR_948298.1:n.1062A>T, NM_001284405.2:c.482A>C, NM_001284405.2:c.482A>T, NM_001284405.1:c.482A>C, NM_001284405.1:c.482A>T, NM_001284404.2:c.536A>C, NM_001284404.2:c.536A>T, NM_001284404.1:c.536A>C, NM_001284404.1:c.536A>T, NM_001284403.2:c.725A>C, NM_001284403.2:c.725A>T, NM_001284403.1:c.725A>C, NM_001284403.1:c.725A>T, XM_047417743.1:c.596A>C, XM_047417743.1:c.596A>T, XM_047417745.1:c.482A>C, XM_047417745.1:c.482A>T, XM_047417744.1:c.539A>C, XM_047417744.1:c.539A>T, XR_007058635.1:n.948A>C, XR_007058635.1:n.948A>T, NP_079030.3:p.Asp351Ala, NP_079030.3:p.Asp351Val, XP_005248658.1:p.Asp313Ala, XP_005248658.1:p.Asp313Val, NP_001271334.1:p.Asp161Ala, NP_001271334.1:p.Asp161Val, NP_001271333.1:p.Asp179Ala, NP_001271333.1:p.Asp179Val, NP_001271332.1:p.Asp242Ala, NP_001271332.1:p.Asp242Val, XP_047273699.1:p.Asp199Ala, XP_047273699.1:p.Asp199Val, XP_047273701.1:p.Asp161Ala, XP_047273701.1:p.Asp161Val, XP_047273700.1:p.Asp180Ala, XP_047273700.1:p.Asp180Val

Select item 145781158115.

rs1457811581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:72326694 (GRCh38)
5:71622521 (GRCh37)
Canonical SPDI:: NC_000005.10:72326693:G:A
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72326694G>A, NC_000005.9:g.71622521G>A, XR_241790.6:n.313G>A, XR_241790.5:n.313G>A, XR_241790.4:n.313G>A, XR_241790.3:n.313G>A, XR_241790.2:n.313G>A, XR_241790.1:n.313G>A, NM_024754.5:c.303G>A, NM_024754.4:c.303G>A, NM_024754.3:c.303G>A, XM_005248601.3:c.303G>A, XM_005248601.2:c.303G>A, XM_005248601.1:c.303G>A, XR_948298.3:n.313G>A, XR_948298.2:n.313G>A, XR_948298.1:n.313G>A, NM_001284405.2:c.-189G>A, NM_001284405.1:c.-189G>A, NM_001284404.2:c.-17G>A, NM_001284404.1:c.-17G>A, XM_047417744.1:c.-93G>A, XR_007058635.1:n.313G>A

Select item 145379288816.

rs1453792888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72352646 (GRCh38)
5:71648473 (GRCh37)
Canonical SPDI:: NC_000005.10:72352645:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72352646A>G, NC_000005.9:g.71648473A>G, XR_241790.6:n.844A>G, XR_241790.5:n.844A>G, XR_241790.4:n.844A>G, XR_241790.3:n.844A>G, XR_241790.2:n.844A>G, XR_241790.1:n.844A>G, NM_024754.5:c.834A>G, NM_024754.4:c.834A>G, NM_024754.3:c.834A>G, XR_948298.3:n.844A>G, XR_948298.2:n.844A>G, XR_948298.1:n.844A>G, NM_001284405.2:c.264A>G, NM_001284405.1:c.264A>G, NM_001284404.2:c.318A>G, NM_001284404.1:c.318A>G, NM_001284403.2:c.507A>G, NM_001284403.1:c.507A>G, XM_047417743.1:c.378A>G, XM_047417745.1:c.264A>G, XM_047417744.1:c.321A>G, NP_079030.3:p.Ile278Met, NP_001271334.1:p.Ile88Met, NP_001271333.1:p.Ile106Met, NP_001271332.1:p.Ile169Met, XP_047273699.1:p.Ile126Met, XP_047273701.1:p.Ile88Met, XP_047273700.1:p.Ile107Met

Select item 145316491817.

rs1453164918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:72352727 (GRCh38)
5:71648554 (GRCh37)
Canonical SPDI:: NC_000005.10:72352726:G:T
Gene:: PTCD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72352727G>T, NC_000005.9:g.71648554G>T, XR_241790.6:n.925G>T, XR_241790.5:n.925G>T, XR_241790.4:n.925G>T, XR_241790.3:n.925G>T, XR_241790.2:n.925G>T, XR_241790.1:n.925G>T, NM_024754.5:c.915G>T, NM_024754.4:c.915G>T, NM_024754.3:c.915G>T, XR_948298.3:n.925G>T, XR_948298.2:n.925G>T, XR_948298.1:n.925G>T, NM_001284405.2:c.345G>T, NM_001284405.1:c.345G>T, NM_001284404.2:c.399G>T, NM_001284404.1:c.399G>T, NM_001284403.2:c.588G>T, NM_001284403.1:c.588G>T, XM_047417743.1:c.459G>T, XM_047417745.1:c.345G>T, XM_047417744.1:c.402G>T

Select item 145122219818.

rs1451222198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72338675 (GRCh38)
5:71634502 (GRCh37)
Canonical SPDI:: NC_000005.10:72338674:C:T
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72338675C>T, NC_000005.9:g.71634502C>T, XR_241790.6:n.703C>T, XR_241790.5:n.703C>T, XR_241790.4:n.703C>T, XR_241790.3:n.703C>T, XR_241790.2:n.703C>T, XR_241790.1:n.703C>T, NM_024754.5:c.693C>T, NM_024754.4:c.693C>T, NM_024754.3:c.693C>T, XM_005248601.3:c.693C>T, XM_005248601.2:c.693C>T, XM_005248601.1:c.693C>T, XR_948298.3:n.703C>T, XR_948298.2:n.703C>T, XR_948298.1:n.703C>T, NM_001284405.2:c.123C>T, NM_001284405.1:c.123C>T, NM_001284404.2:c.177C>T, NM_001284404.1:c.177C>T, NM_001284403.2:c.366C>T, NM_001284403.1:c.366C>T, XM_047417743.1:c.237C>T, XM_047417745.1:c.123C>T, XM_047417744.1:c.180C>T, XR_007058635.1:n.703C>T

Select item 145110645719.

rs1451106457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:72338709 (GRCh38)
5:71634536 (GRCh37)
Canonical SPDI:: NC_000005.10:72338708:T:G
Gene:: PTCD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.72338709T>G, NC_000005.9:g.71634536T>G, XR_241790.6:n.737T>G, XR_241790.5:n.737T>G, XR_241790.4:n.737T>G, XR_241790.3:n.737T>G, XR_241790.2:n.737T>G, XR_241790.1:n.737T>G, NM_024754.5:c.727T>G, NM_024754.4:c.727T>G, NM_024754.3:c.727T>G, XM_005248601.3:c.727T>G, XM_005248601.2:c.727T>G, XM_005248601.1:c.727T>G, XR_948298.3:n.737T>G, XR_948298.2:n.737T>G, XR_948298.1:n.737T>G, NM_001284405.2:c.157T>G, NM_001284405.1:c.157T>G, NM_001284404.2:c.211T>G, NM_001284404.1:c.211T>G, NM_001284403.2:c.400T>G, NM_001284403.1:c.400T>G, XM_047417743.1:c.271T>G, XM_047417745.1:c.157T>G, XM_047417744.1:c.214T>G, XR_007058635.1:n.737T>G, NP_079030.3:p.Phe243Val, XP_005248658.1:p.Phe243Val, NP_001271334.1:p.Phe53Val, NP_001271333.1:p.Phe71Val, NP_001271332.1:p.Phe134Val, XP_047273699.1:p.Phe91Val, XP_047273701.1:p.Phe53Val, XP_047273700.1:p.Phe72Val

Select item 145040941420.

rs1450409414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72335063 (GRCh38)
5:71630890 (GRCh37)
Canonical SPDI:: NC_000005.10:72335062:A:G
Gene:: PTCD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72335063A>G, NC_000005.9:g.71630890A>G, XR_241790.6:n.524A>G, XR_241790.5:n.524A>G, XR_241790.4:n.524A>G, XR_241790.3:n.524A>G, XR_241790.2:n.524A>G, XR_241790.1:n.524A>G, NM_024754.5:c.514A>G, NM_024754.4:c.514A>G, NM_024754.3:c.514A>G, XM_005248601.3:c.514A>G, XM_005248601.2:c.514A>G, XM_005248601.1:c.514A>G, XR_948298.3:n.524A>G, XR_948298.2:n.524A>G, XR_948298.1:n.524A>G, XM_047417743.1:c.58A>G, XM_047417744.1:c.1A>G, XR_007058635.1:n.524A>G, NP_079030.3:p.Met172Val, XP_005248658.1:p.Met172Val, XP_047273699.1:p.Met20Val, XP_047273700.1:p.Met1Val

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dbSNP

Result Filters

Validation Status

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Annotation

Global MAF

Custom range

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Display Settings:

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Items: 1 to 20 of 392

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