SNP Links for Protein (Select 546231210) - SNP

Select item 14903038011.

rs1490303801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:91509507 (GRCh38)
14:91975851 (GRCh37)
Canonical SPDI:: NC_000014.9:91509506:G:A
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.91509507G>A, NC_000014.8:g.91975851G>A, NM_032560.4:c.141C>T, NM_017936.3:c.141C>T, XM_005267842.3:c.141C>T, XM_005267842.2:c.141C>T, XM_005267842.1:c.141C>T, NM_001366432.2:c.141C>T, NM_001366432.1:c.141C>T, NM_001284280.2:c.141C>T, NM_001284280.1:c.141C>T, NR_158976.2:n.434C>T, NR_158976.1:n.434C>T, NM_017936.2:c.141C>T, NM_001284281.2:c.141C>T, NM_001284281.1:c.141C>T, NR_169192.1:n.804C>T, NR_169191.1:n.804C>T, NR_169193.1:n.224C>T, XM_047431561.1:c.141C>T, XM_047431562.1:c.141C>T, NM_017936.1:c.141C>T, XM_047431563.1:c.141C>T

Select item 14899533912.

rs1489953391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:91509624 (GRCh38)
14:91975968 (GRCh37)
Canonical SPDI:: NC_000014.9:91509623:C:T
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.91509624C>T, NC_000014.8:g.91975968C>T, NM_032560.4:c.24G>A, NM_017936.3:c.24G>A, XM_005267842.3:c.24G>A, XM_005267842.2:c.24G>A, XM_005267842.1:c.24G>A, NM_001366432.2:c.24G>A, NM_001366432.1:c.24G>A, NM_001284280.2:c.24G>A, NM_001284280.1:c.24G>A, NR_158976.2:n.317G>A, NR_158976.1:n.317G>A, NM_017936.2:c.24G>A, NM_001284281.2:c.24G>A, NM_001284281.1:c.24G>A, NR_169192.1:n.687G>A, NR_169191.1:n.687G>A, NR_169193.1:n.107G>A, XM_047431561.1:c.24G>A, XM_047431562.1:c.24G>A, NM_017936.1:c.24G>A, XM_047431563.1:c.24G>A

Select item 14890654163.

rs1489065416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:91509579 (GRCh38)
14:91975923 (GRCh37)
Canonical SPDI:: NC_000014.9:91509578:G:A
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.91509579G>A, NC_000014.8:g.91975923G>A, NM_032560.4:c.69C>T, NM_017936.3:c.69C>T, XM_005267842.3:c.69C>T, XM_005267842.2:c.69C>T, XM_005267842.1:c.69C>T, NM_001366432.2:c.69C>T, NM_001366432.1:c.69C>T, NM_001284280.2:c.69C>T, NM_001284280.1:c.69C>T, NR_158976.2:n.362C>T, NR_158976.1:n.362C>T, NM_017936.2:c.69C>T, NM_001284281.2:c.69C>T, NM_001284281.1:c.69C>T, NR_169192.1:n.732C>T, NR_169191.1:n.732C>T, NR_169193.1:n.152C>T, XM_047431561.1:c.69C>T, XM_047431562.1:c.69C>T, NM_017936.1:c.69C>T, XM_047431563.1:c.69C>T

Select item 14889852284.

rs1488985228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:91462785 (GRCh38)
14:91929129 (GRCh37)
Canonical SPDI:: NC_000014.9:91462784:T:C,NC_000014.9:91462784:T:G
Gene:: PPP4R3A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (KOREAN)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.91462785T>C, NC_000014.9:g.91462785T>G, NC_000014.8:g.91929129T>C, NC_000014.8:g.91929129T>G, NM_032560.4:c.1884A>G, NM_032560.4:c.1884A>C, NM_017936.3:c.*417A>G, NM_017936.3:c.*417A>C, XM_005267842.3:c.1923A>G, XM_005267842.3:c.1923A>C, XM_005267842.2:c.1923A>G, XM_005267842.2:c.1923A>C, XM_005267842.1:c.1923A>G, XM_005267842.1:c.1923A>C, NM_001366432.2:c.1923A>G, NM_001366432.2:c.1923A>C, NM_001366432.1:c.1923A>G, NM_001366432.1:c.1923A>C, NM_001284280.2:c.1884A>G, NM_001284280.2:c.1884A>C, NM_001284280.1:c.1884A>G, NM_001284280.1:c.1884A>C, NR_158976.2:n.2372A>G, NR_158976.2:n.2372A>C, NR_158976.1:n.2372A>G, NR_158976.1:n.2372A>C, NM_017936.2:c.*417A>G, NM_017936.2:c.*417A>C, NM_001284281.2:c.1206A>G, NM_001284281.2:c.1206A>C, NM_001284281.1:c.1206A>G, NM_001284281.1:c.1206A>C, NR_169192.1:n.2742A>G, NR_169192.1:n.2742A>C, NR_169191.1:n.2703A>G, NR_169191.1:n.2703A>C, NR_169193.1:n.2123A>G, NR_169193.1:n.2123A>C, XM_047431561.1:c.1884A>G, XM_047431561.1:c.1884A>C, NM_017936.1:c.*417A>G, NM_017936.1:c.*417A>C, XP_005267899.1:p.Lys641Asn, NP_001353361.1:p.Lys641Asn, NP_001271209.1:p.Lys628Asn, NP_001271210.1:p.Lys402Asn, XP_047287517.1:p.Lys628Asn

Select item 14864809705.

rs1486480970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91461524 (GRCh38)
14:91927868 (GRCh37)
Canonical SPDI:: NC_000014.9:91461523:T:C
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91461524T>C, NC_000014.8:g.91927868T>C, NM_032560.4:c.2209A>G, NM_017936.3:c.*742A>G, XM_005267842.3:c.2248A>G, XM_005267842.2:c.2248A>G, XM_005267842.1:c.2248A>G, NM_001366432.2:c.2248A>G, NM_001366432.1:c.2248A>G, NM_001284280.2:c.2209A>G, NM_001284280.1:c.2209A>G, NR_158976.2:n.2697A>G, NR_158976.1:n.2697A>G, NM_017936.2:c.*745A>G, NM_001284281.2:c.1531A>G, NM_001284281.1:c.1531A>G, NR_169192.1:n.3067A>G, NR_169191.1:n.3028A>G, NR_169193.1:n.2448A>G, XM_047431561.1:c.2209A>G, XP_005267899.1:p.Ser750Gly, NP_001353361.1:p.Ser750Gly, NP_001271209.1:p.Ser737Gly, NP_001271210.1:p.Ser511Gly, XP_047287517.1:p.Ser737Gly

Select item 14852763556.

rs1485276355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:91465306 (GRCh38)
14:91931650 (GRCh37)
Canonical SPDI:: NC_000014.9:91465305:A:G,NC_000014.9:91465305:A:T
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91465306A>G, NC_000014.9:g.91465306A>T, NC_000014.8:g.91931650A>G, NC_000014.8:g.91931650A>T, NM_032560.4:c.1735T>C, NM_032560.4:c.1735T>A, NM_017936.3:c.*268T>C, NM_017936.3:c.*268T>A, XM_005267842.3:c.1774T>C, XM_005267842.3:c.1774T>A, XM_005267842.2:c.1774T>C, XM_005267842.2:c.1774T>A, XM_005267842.1:c.1774T>C, XM_005267842.1:c.1774T>A, NM_001366432.2:c.1774T>C, NM_001366432.2:c.1774T>A, NM_001366432.1:c.1774T>C, NM_001366432.1:c.1774T>A, NM_001284280.2:c.1735T>C, NM_001284280.2:c.1735T>A, NM_001284280.1:c.1735T>C, NM_001284280.1:c.1735T>A, NR_158976.2:n.2223T>C, NR_158976.2:n.2223T>A, NR_158976.1:n.2223T>C, NR_158976.1:n.2223T>A, NM_017936.2:c.*268T>C, NM_017936.2:c.*268T>A, NM_001284281.2:c.1057T>C, NM_001284281.2:c.1057T>A, NM_001284281.1:c.1057T>C, NM_001284281.1:c.1057T>A, NR_169192.1:n.2593T>C, NR_169192.1:n.2593T>A, NR_169191.1:n.2554T>C, NR_169191.1:n.2554T>A, NR_169193.1:n.1974T>C, NR_169193.1:n.1974T>A, XM_047431561.1:c.1735T>C, XM_047431561.1:c.1735T>A, NM_017936.1:c.*268T>C, NM_017936.1:c.*268T>A, XP_005267899.1:p.Ser592Pro, XP_005267899.1:p.Ser592Thr, NP_001353361.1:p.Ser592Pro, NP_001353361.1:p.Ser592Thr, NP_001271209.1:p.Ser579Pro, NP_001271209.1:p.Ser579Thr, NP_001271210.1:p.Ser353Pro, NP_001271210.1:p.Ser353Thr, XP_047287517.1:p.Ser579Pro, XP_047287517.1:p.Ser579Thr

Select item 14834439927.

rs1483443992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:91462777 (GRCh38)
14:91929121 (GRCh37)
Canonical SPDI:: NC_000014.9:91462776:A:G
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91462777A>G, NC_000014.8:g.91929121A>G, NM_032560.4:c.1892T>C, NM_017936.3:c.*425T>C, XM_005267842.3:c.1931T>C, XM_005267842.2:c.1931T>C, XM_005267842.1:c.1931T>C, NM_001366432.2:c.1931T>C, NM_001366432.1:c.1931T>C, NM_001284280.2:c.1892T>C, NM_001284280.1:c.1892T>C, NR_158976.2:n.2380T>C, NR_158976.1:n.2380T>C, NM_017936.2:c.*425T>C, NM_001284281.2:c.1214T>C, NM_001284281.1:c.1214T>C, NR_169192.1:n.2750T>C, NR_169191.1:n.2711T>C, NR_169193.1:n.2131T>C, XM_047431561.1:c.1892T>C, NM_017936.1:c.*425T>C, XP_005267899.1:p.Phe644Ser, NP_001353361.1:p.Phe644Ser, NP_001271209.1:p.Phe631Ser, NP_001271210.1:p.Phe405Ser, XP_047287517.1:p.Phe631Ser

Select item 14767022338.

rs1476702233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91473054 (GRCh38)
14:91939398 (GRCh37)
Canonical SPDI:: NC_000014.9:91473053:T:C
Gene:: PPP4R3A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91473054T>C, NC_000014.8:g.91939398T>C, NM_032560.4:c.1441A>G, NM_017936.3:c.1441A>G, XM_005267842.3:c.1480A>G, XM_005267842.2:c.1480A>G, XM_005267842.1:c.1480A>G, NM_001366432.2:c.1480A>G, NM_001366432.1:c.1480A>G, NM_001284280.2:c.1441A>G, NM_001284280.1:c.1441A>G, NR_158976.2:n.1773A>G, NR_158976.1:n.1773A>G, NM_017936.2:c.1441A>G, NM_001284281.2:c.763A>G, NM_001284281.1:c.763A>G, NR_169192.1:n.2143A>G, NR_169191.1:n.2104A>G, NR_169193.1:n.1524A>G, XM_047431561.1:c.1441A>G, XM_047431562.1:c.1480A>G, NM_017936.1:c.1441A>G, XM_047431563.1:c.1480A>G, XP_005267899.1:p.Thr494Ala, NP_001353361.1:p.Thr494Ala, NP_001271209.1:p.Thr481Ala, NP_001271210.1:p.Thr255Ala, XP_047287517.1:p.Thr481Ala, XP_047287518.1:p.Thr494Ala, XP_047287519.1:p.Thr494Ala

Select item 14682409979.

rs1468240997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:91465409 (GRCh38)
14:91931753 (GRCh37)
Canonical SPDI:: NC_000014.9:91465408:A:G
Gene:: PPP4R3A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.91465409A>G, NC_000014.8:g.91931753A>G, NM_032560.4:c.1632T>C, NM_017936.3:c.*165T>C, XM_005267842.3:c.1671T>C, XM_005267842.2:c.1671T>C, XM_005267842.1:c.1671T>C, NM_001366432.2:c.1671T>C, NM_001366432.1:c.1671T>C, NM_001284280.2:c.1632T>C, NM_001284280.1:c.1632T>C, NR_158976.2:n.2120T>C, NR_158976.1:n.2120T>C, NM_017936.2:c.*165T>C, NM_001284281.2:c.954T>C, NM_001284281.1:c.954T>C, NR_169192.1:n.2490T>C, NR_169191.1:n.2451T>C, NR_169193.1:n.1871T>C, XM_047431561.1:c.1632T>C, NM_017936.1:c.*165T>C

Select item 146568762010.

rs1465687620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91473134 (GRCh38)
14:91939478 (GRCh37)
Canonical SPDI:: NC_000014.9:91473133:T:C
Gene:: PPP4R3A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.91473134T>C, NC_000014.8:g.91939478T>C, NM_032560.4:c.1361A>G, NM_017936.3:c.1361A>G, XM_005267842.3:c.1400A>G, XM_005267842.2:c.1400A>G, XM_005267842.1:c.1400A>G, NM_001366432.2:c.1400A>G, NM_001366432.1:c.1400A>G, NM_001284280.2:c.1361A>G, NM_001284280.1:c.1361A>G, NR_158976.2:n.1693A>G, NR_158976.1:n.1693A>G, NM_017936.2:c.1361A>G, NM_001284281.2:c.683A>G, NM_001284281.1:c.683A>G, NR_169192.1:n.2063A>G, NR_169191.1:n.2024A>G, NR_169193.1:n.1444A>G, XM_047431561.1:c.1361A>G, XM_047431562.1:c.1400A>G, NM_017936.1:c.1361A>G, XM_047431563.1:c.1400A>G, XP_005267899.1:p.Lys467Arg, NP_001353361.1:p.Lys467Arg, NP_001271209.1:p.Lys454Arg, NP_001271210.1:p.Lys228Arg, XP_047287517.1:p.Lys454Arg, XP_047287518.1:p.Lys467Arg, XP_047287519.1:p.Lys467Arg

Select item 146394106011.

rs1463941060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:91476487 (GRCh38)
14:91942831 (GRCh37)
Canonical SPDI:: NC_000014.9:91476486:G:A,NC_000014.9:91476486:G:T
Gene:: PPP4R3A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.91476487G>A, NC_000014.9:g.91476487G>T, NC_000014.8:g.91942831G>A, NC_000014.8:g.91942831G>T, NM_032560.4:c.1031C>T, NM_032560.4:c.1031C>A, NM_017936.3:c.1031C>T, NM_017936.3:c.1031C>A, XM_005267842.3:c.1031C>T, XM_005267842.3:c.1031C>A, XM_005267842.2:c.1031C>T, XM_005267842.2:c.1031C>A, XM_005267842.1:c.1031C>T, XM_005267842.1:c.1031C>A, NM_001366432.2:c.1031C>T, NM_001366432.2:c.1031C>A, NM_001366432.1:c.1031C>T, NM_001366432.1:c.1031C>A, NM_001284280.2:c.1031C>T, NM_001284280.2:c.1031C>A, NM_001284280.1:c.1031C>T, NM_001284280.1:c.1031C>A, NR_158976.2:n.1324C>T, NR_158976.2:n.1324C>A, NR_158976.1:n.1324C>T, NR_158976.1:n.1324C>A, NM_017936.2:c.1031C>T, NM_017936.2:c.1031C>A, NM_001284281.2:c.314C>T, NM_001284281.2:c.314C>A, NM_001284281.1:c.314C>T, NM_001284281.1:c.314C>A, NR_169192.1:n.1694C>T, NR_169192.1:n.1694C>A, NR_169191.1:n.1694C>T, NR_169191.1:n.1694C>A, NR_169193.1:n.1114C>T, NR_169193.1:n.1114C>A, XM_047431561.1:c.1031C>T, XM_047431561.1:c.1031C>A, XM_047431562.1:c.1031C>T, XM_047431562.1:c.1031C>A, NM_017936.1:c.1031C>T, NM_017936.1:c.1031C>A, XM_047431563.1:c.1031C>T, XM_047431563.1:c.1031C>A, XP_005267899.1:p.Thr344Met, XP_005267899.1:p.Thr344Lys, NP_001353361.1:p.Thr344Met, NP_001353361.1:p.Thr344Lys, NP_001271209.1:p.Thr344Met, NP_001271209.1:p.Thr344Lys, NP_001271210.1:p.Thr105Met, NP_001271210.1:p.Thr105Lys, XP_047287517.1:p.Thr344Met, XP_047287517.1:p.Thr344Lys, XP_047287518.1:p.Thr344Met, XP_047287518.1:p.Thr344Lys, XP_047287519.1:p.Thr344Met, XP_047287519.1:p.Thr344Lys

Select item 146155802612.

rs1461558026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:91473364 (GRCh38)
14:91939708 (GRCh37)
Canonical SPDI:: NC_000014.9:91473363:A:G
Gene:: PPP4R3A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.91473364A>G, NC_000014.8:g.91939708A>G, NM_032560.4:c.1234T>C, NM_017936.3:c.1234T>C, XM_005267842.3:c.1273T>C, XM_005267842.2:c.1273T>C, XM_005267842.1:c.1273T>C, NM_001366432.2:c.1273T>C, NM_001366432.1:c.1273T>C, NM_001284280.2:c.1234T>C, NM_001284280.1:c.1234T>C, NR_158976.2:n.1566T>C, NR_158976.1:n.1566T>C, NM_017936.2:c.1234T>C, NM_001284281.2:c.556T>C, NM_001284281.1:c.556T>C, NR_169192.1:n.1936T>C, NR_169191.1:n.1897T>C, NR_169193.1:n.1317T>C, XM_047431561.1:c.1234T>C, XM_047431562.1:c.1273T>C, NM_017936.1:c.1234T>C, XM_047431563.1:c.1273T>C

Select item 146065797713.

rs1460657977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91465311 (GRCh38)
14:91931655 (GRCh37)
Canonical SPDI:: NC_000014.9:91465310:T:C
Gene:: PPP4R3A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000014.9:g.91465311T>C, NC_000014.8:g.91931655T>C, NM_032560.4:c.1730A>G, NM_017936.3:c.*263A>G, XM_005267842.3:c.1769A>G, XM_005267842.2:c.1769A>G, XM_005267842.1:c.1769A>G, NM_001366432.2:c.1769A>G, NM_001366432.1:c.1769A>G, NM_001284280.2:c.1730A>G, NM_001284280.1:c.1730A>G, NR_158976.2:n.2218A>G, NR_158976.1:n.2218A>G, NM_017936.2:c.*263A>G, NM_001284281.2:c.1052A>G, NM_001284281.1:c.1052A>G, NR_169192.1:n.2588A>G, NR_169191.1:n.2549A>G, NR_169193.1:n.1969A>G, XM_047431561.1:c.1730A>G, NM_017936.1:c.*263A>G, XP_005267899.1:p.Asn590Ser, NP_001353361.1:p.Asn590Ser, NP_001271209.1:p.Asn577Ser, NP_001271210.1:p.Asn351Ser, XP_047287517.1:p.Asn577Ser

Select item 146023541214.

rs1460235412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:91461435 (GRCh38)
14:91927779 (GRCh37)
Canonical SPDI:: NC_000014.9:91461434:G:T
Gene:: PPP4R3A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91461435G>T, NC_000014.8:g.91927779G>T, NM_032560.4:c.2298C>A, NM_017936.3:c.*831C>A, XM_005267842.3:c.2337C>A, XM_005267842.2:c.2337C>A, XM_005267842.1:c.2337C>A, NM_001366432.2:c.2337C>A, NM_001366432.1:c.2337C>A, NM_001284280.2:c.2298C>A, NM_001284280.1:c.2298C>A, NR_158976.2:n.2786C>A, NR_158976.1:n.2786C>A, NM_017936.2:c.*834C>A, NM_001284281.2:c.1620C>A, NM_001284281.1:c.1620C>A, NR_169192.1:n.3156C>A, NR_169191.1:n.3117C>A, NR_169193.1:n.2537C>A, XM_047431561.1:c.2298C>A

Select item 145762429615.

rs1457624296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91470976 (GRCh38)
14:91937320 (GRCh37)
Canonical SPDI:: NC_000014.9:91470975:T:C
Gene:: PPP4R3A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91470976T>C, NC_000014.8:g.91937320T>C, NM_032560.4:c.1482A>G, NM_017936.3:c.1482A>G, XM_005267842.3:c.1521A>G, XM_005267842.2:c.1521A>G, XM_005267842.1:c.1521A>G, NM_001366432.2:c.1521A>G, NM_001366432.1:c.1521A>G, NM_001284280.2:c.1482A>G, NM_001284280.1:c.1482A>G, NR_158976.2:n.1814A>G, NR_158976.1:n.1814A>G, NM_017936.2:c.1482A>G, NM_001284281.2:c.804A>G, NM_001284281.1:c.804A>G, NR_169192.1:n.2184A>G, NR_169191.1:n.2145A>G, NR_169193.1:n.1565A>G, XM_047431561.1:c.1482A>G, XM_047431562.1:c.1521A>G, NM_017936.1:c.1482A>G, XM_047431563.1:c.1521A>G

Select item 145394951516.

rs1453949515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:91473324 (GRCh38)
14:91939668 (GRCh37)
Canonical SPDI:: NC_000014.9:91473323:G:T
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91473324G>T, NC_000014.8:g.91939668G>T, NM_032560.4:c.1274C>A, NM_017936.3:c.1274C>A, XM_005267842.3:c.1313C>A, XM_005267842.2:c.1313C>A, XM_005267842.1:c.1313C>A, NM_001366432.2:c.1313C>A, NM_001366432.1:c.1313C>A, NM_001284280.2:c.1274C>A, NM_001284280.1:c.1274C>A, NR_158976.2:n.1606C>A, NR_158976.1:n.1606C>A, NM_017936.2:c.1274C>A, NM_001284281.2:c.596C>A, NM_001284281.1:c.596C>A, NR_169192.1:n.1976C>A, NR_169191.1:n.1937C>A, NR_169193.1:n.1357C>A, XM_047431561.1:c.1274C>A, XM_047431562.1:c.1313C>A, NM_017936.1:c.1274C>A, XM_047431563.1:c.1313C>A, XP_005267899.1:p.Thr438Lys, NP_001353361.1:p.Thr438Lys, NP_001271209.1:p.Thr425Lys, NP_001271210.1:p.Thr199Lys, XP_047287517.1:p.Thr425Lys, XP_047287518.1:p.Thr438Lys, XP_047287519.1:p.Thr438Lys

Select item 145347737017.

rs1453477370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:91473349 (GRCh38)
14:91939693 (GRCh37)
Canonical SPDI:: NC_000014.9:91473348:T:A
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.91473349T>A, NC_000014.8:g.91939693T>A, NM_032560.4:c.1249A>T, NM_017936.3:c.1249A>T, XM_005267842.3:c.1288A>T, XM_005267842.2:c.1288A>T, XM_005267842.1:c.1288A>T, NM_001366432.2:c.1288A>T, NM_001366432.1:c.1288A>T, NM_001284280.2:c.1249A>T, NM_001284280.1:c.1249A>T, NR_158976.2:n.1581A>T, NR_158976.1:n.1581A>T, NM_017936.2:c.1249A>T, NM_001284281.2:c.571A>T, NM_001284281.1:c.571A>T, NR_169192.1:n.1951A>T, NR_169191.1:n.1912A>T, NR_169193.1:n.1332A>T, XM_047431561.1:c.1249A>T, XM_047431562.1:c.1288A>T, NM_017936.1:c.1249A>T, XM_047431563.1:c.1288A>T, XP_005267899.1:p.Ile430Phe, NP_001353361.1:p.Ile430Phe, NP_001271209.1:p.Ile417Phe, NP_001271210.1:p.Ile191Phe, XP_047287517.1:p.Ile417Phe, XP_047287518.1:p.Ile430Phe, XP_047287519.1:p.Ile430Phe

Select item 145241147718.

rs1452411477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:91461501 (GRCh38)
14:91927845 (GRCh37)
Canonical SPDI:: NC_000014.9:91461500:G:A
Gene:: PPP4R3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.91461501G>A, NC_000014.8:g.91927845G>A, NM_032560.4:c.2232C>T, NM_017936.3:c.*765C>T, XM_005267842.3:c.2271C>T, XM_005267842.2:c.2271C>T, XM_005267842.1:c.2271C>T, NM_001366432.2:c.2271C>T, NM_001366432.1:c.2271C>T, NM_001284280.2:c.2232C>T, NM_001284280.1:c.2232C>T, NR_158976.2:n.2720C>T, NR_158976.1:n.2720C>T, NM_017936.2:c.*768C>T, NM_001284281.2:c.1554C>T, NM_001284281.1:c.1554C>T, NR_169192.1:n.3090C>T, NR_169191.1:n.3051C>T, NR_169193.1:n.2471C>T, XM_047431561.1:c.2232C>T

Select item 145206626219.

rs1452066262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:91476962 (GRCh38)
14:91943306 (GRCh37)
Canonical SPDI:: NC_000014.9:91476961:A:G
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000014.9:g.91476962A>G, NC_000014.8:g.91943306A>G, NM_032560.4:c.940T>C, NM_017936.3:c.940T>C, XM_005267842.3:c.940T>C, XM_005267842.2:c.940T>C, XM_005267842.1:c.940T>C, NM_001366432.2:c.940T>C, NM_001366432.1:c.940T>C, NM_001284280.2:c.940T>C, NM_001284280.1:c.940T>C, NR_158976.2:n.1233T>C, NR_158976.1:n.1233T>C, NM_017936.2:c.940T>C, NM_001284281.2:c.223T>C, NM_001284281.1:c.223T>C, NR_169192.1:n.1603T>C, NR_169191.1:n.1603T>C, NR_169193.1:n.1023T>C, XM_047431561.1:c.940T>C, XM_047431562.1:c.940T>C, NM_017936.1:c.940T>C, XM_047431563.1:c.940T>C

Select item 145030780720.

rs1450307807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:91470941 (GRCh38)
14:91937285 (GRCh37)
Canonical SPDI:: NC_000014.9:91470940:C:A
Gene:: PPP4R3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.91470941C>A, NC_000014.8:g.91937285C>A, NM_032560.4:c.1517G>T, NM_017936.3:c.1517G>T, XM_005267842.3:c.1556G>T, XM_005267842.2:c.1556G>T, XM_005267842.1:c.1556G>T, NM_001366432.2:c.1556G>T, NM_001366432.1:c.1556G>T, NM_001284280.2:c.1517G>T, NM_001284280.1:c.1517G>T, NR_158976.2:n.1849G>T, NR_158976.1:n.1849G>T, NM_017936.2:c.1517G>T, NM_001284281.2:c.839G>T, NM_001284281.1:c.839G>T, NR_169192.1:n.2219G>T, NR_169191.1:n.2180G>T, NR_169193.1:n.1600G>T, XM_047431561.1:c.1517G>T, XM_047431562.1:c.1556G>T, NM_017936.1:c.1517G>T, XM_047431563.1:c.1556G>T, XP_005267899.1:p.Cys519Phe, NP_001353361.1:p.Cys519Phe, NP_001271209.1:p.Cys506Phe, NP_001271210.1:p.Cys280Phe, XP_047287517.1:p.Cys506Phe, XP_047287518.1:p.Cys519Phe, XP_047287519.1:p.Cys519Phe

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 401

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