SNP Links for Protein (Select 530400838) - SNP

Links from Protein

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Select item 14865345561.

rs1486534556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:57594030 (GRCh38)
12:57987813 (GRCh37)
Canonical SPDI:: NC_000012.12:57594029:T:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57594030T>G, NC_000012.11:g.57987813T>G, NM_024779.5:c.180T>G, NM_024779.4:c.180T>G, XM_005269152.4:c.180T>G, XM_005269152.3:c.180T>G, XM_005269152.2:c.180T>G, XM_005269152.1:c.180T>G, XM_011538747.3:c.180T>G, XM_011538747.2:c.180T>G, XM_011538747.1:c.180T>G, NM_001146259.2:c.180T>G, NM_001146259.1:c.180T>G, NM_001146260.2:c.180T>G, NM_001146260.1:c.180T>G, NM_001146258.2:c.180T>G, NM_001146258.1:c.180T>G, XM_047429551.1:c.-28T>G, NP_079055.3:p.Asn60Lys, XP_005269209.1:p.Asn60Lys, XP_011537049.1:p.Asn60Lys, NP_001139731.1:p.Asn60Lys, NP_001139732.1:p.Asn60Lys, NP_001139730.1:p.Asn60Lys

Select item 14835129612.

rs1483512961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57600327 (GRCh38)
12:57994110 (GRCh37)
Canonical SPDI:: NC_000012.12:57600326:A:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57600327A>G, NC_000012.11:g.57994110A>G, NM_024779.5:c.703A>G, NM_024779.4:c.703A>G, XM_005269152.4:c.664A>G, XM_005269152.3:c.664A>G, XM_005269152.2:c.664A>G, XM_005269152.1:c.664A>G, NM_001146259.2:c.649A>G, NM_001146259.1:c.649A>G, NM_001146260.2:c.559A>G, NM_001146260.1:c.559A>G, NM_001146258.2:c.703A>G, NM_001146258.1:c.703A>G, XM_047429551.1:c.496A>G, XM_047429552.1:c.193A>G, NP_079055.3:p.Lys235Glu, XP_005269209.1:p.Lys222Glu, NP_001139731.1:p.Lys217Glu, NP_001139732.1:p.Lys187Glu, NP_001139730.1:p.Lys235Glu, XP_047285507.1:p.Lys166Glu, XP_047285508.1:p.Lys65Glu

Select item 14830578733.

rs1483057873 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGGG>- [Show Flanks]
Chromosome:: 12:57591431 (GRCh38)
12:57985214 (GRCh37)
Canonical SPDI:: NC_000012.12:57591429:GGTGGG:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.57591431_57591435del, NC_000012.11:g.57985214_57985218del, NM_024779.5:c.142_146del, NM_024779.4:c.142_146del, XM_005269152.4:c.142_146del, XM_005269152.3:c.142_146del, XM_005269152.2:c.142_146del, XM_005269152.1:c.142_146del, XM_011538747.3:c.142_146del, XM_011538747.2:c.142_146del, XM_011538747.1:c.142_146del, NM_001146259.2:c.142_146del, NM_001146259.1:c.142_146del, NM_001146260.2:c.142_146del, NM_001146260.1:c.142_146del, NM_001146258.2:c.142_146del, NM_001146258.1:c.142_146del, NP_079055.3:p.Val48fs, XP_005269209.1:p.Val48fs, XP_011537049.1:p.Val48fs, NP_001139731.1:p.Val48fs, NP_001139732.1:p.Val48fs, NP_001139730.1:p.Val48fs

Select item 14794067194.

rs1479406719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:57600941 (GRCh38)
12:57994724 (GRCh37)
Canonical SPDI:: NC_000012.12:57600940:T:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.57600941T>G, NC_000012.11:g.57994724T>G, NM_024779.5:c.944T>G, NM_024779.4:c.944T>G, XM_005269152.4:c.905T>G, XM_005269152.3:c.905T>G, XM_005269152.2:c.905T>G, XM_005269152.1:c.905T>G, NM_001146259.2:c.890T>G, NM_001146259.1:c.890T>G, NM_001146260.2:c.800T>G, NM_001146260.1:c.800T>G, NM_001146258.2:c.944T>G, NM_001146258.1:c.944T>G, XM_047429551.1:c.737T>G, XM_047429552.1:c.434T>G, NP_079055.3:p.Leu315Arg, XP_005269209.1:p.Leu302Arg, NP_001139731.1:p.Leu297Arg, NP_001139732.1:p.Leu267Arg, NP_001139730.1:p.Leu315Arg, XP_047285507.1:p.Leu246Arg, XP_047285508.1:p.Leu145Arg

Select item 14722247865.

rs1472224786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57595932 (GRCh38)
12:57989715 (GRCh37)
Canonical SPDI:: NC_000012.12:57595931:T:C
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57595932T>C, NC_000012.11:g.57989715T>C, NM_024779.5:c.414T>C, NM_024779.4:c.414T>C, XM_005269152.4:c.414T>C, XM_005269152.3:c.414T>C, XM_005269152.2:c.414T>C, XM_005269152.1:c.414T>C, XM_011538747.3:c.414T>C, XM_011538747.2:c.414T>C, XM_011538747.1:c.414T>C, NM_001146259.2:c.360T>C, NM_001146259.1:c.360T>C, NM_001146258.2:c.414T>C, NM_001146258.1:c.414T>C, XM_047429551.1:c.207T>C

Select item 14719102016.

rs1471910201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57601566 (GRCh38)
12:57995349 (GRCh37)
Canonical SPDI:: NC_000012.12:57601565:C:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57601566C>G, NC_000012.11:g.57995349C>G, NM_024779.5:c.1226C>G, NM_024779.4:c.1226C>G, XM_005269152.4:c.1187C>G, XM_005269152.3:c.1187C>G, XM_005269152.2:c.1187C>G, XM_005269152.1:c.1187C>G, NM_001146259.2:c.1172C>G, NM_001146259.1:c.1172C>G, NM_001146260.2:c.1082C>G, NM_001146260.1:c.1082C>G, NM_001146258.2:c.1226C>G, NM_001146258.1:c.1226C>G, XM_047429551.1:c.1019C>G, XM_047429552.1:c.716C>G, NP_079055.3:p.Ala409Gly, XP_005269209.1:p.Ala396Gly, NP_001139731.1:p.Ala391Gly, NP_001139732.1:p.Ala361Gly, NP_001139730.1:p.Ala409Gly, XP_047285507.1:p.Ala340Gly, XP_047285508.1:p.Ala239Gly

Select item 14701542247.

rs1470154224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:57595911 (GRCh38)
12:57989694 (GRCh37)
Canonical SPDI:: NC_000012.12:57595910:C:A,NC_000012.12:57595910:C:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57595911C>A, NC_000012.12:g.57595911C>G, NC_000012.11:g.57989694C>A, NC_000012.11:g.57989694C>G, NM_024779.5:c.393C>A, NM_024779.5:c.393C>G, NM_024779.4:c.393C>A, NM_024779.4:c.393C>G, XM_005269152.4:c.393C>A, XM_005269152.4:c.393C>G, XM_005269152.3:c.393C>A, XM_005269152.3:c.393C>G, XM_005269152.2:c.393C>A, XM_005269152.2:c.393C>G, XM_005269152.1:c.393C>A, XM_005269152.1:c.393C>G, XM_011538747.3:c.393C>A, XM_011538747.3:c.393C>G, XM_011538747.2:c.393C>A, XM_011538747.2:c.393C>G, XM_011538747.1:c.393C>A, XM_011538747.1:c.393C>G, NM_001146259.2:c.339C>A, NM_001146259.2:c.339C>G, NM_001146259.1:c.339C>A, NM_001146259.1:c.339C>G, NM_001146258.2:c.393C>A, NM_001146258.2:c.393C>G, NM_001146258.1:c.393C>A, NM_001146258.1:c.393C>G, XM_047429551.1:c.186C>A, XM_047429551.1:c.186C>G

Select item 14679156128.

rs1467915612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57594047 (GRCh38)
12:57987830 (GRCh37)
Canonical SPDI:: NC_000012.12:57594046:C:T
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57594047C>T, NC_000012.11:g.57987830C>T, NM_024779.5:c.197C>T, NM_024779.4:c.197C>T, XM_005269152.4:c.197C>T, XM_005269152.3:c.197C>T, XM_005269152.2:c.197C>T, XM_005269152.1:c.197C>T, XM_011538747.3:c.197C>T, XM_011538747.2:c.197C>T, XM_011538747.1:c.197C>T, NM_001146259.2:c.197C>T, NM_001146259.1:c.197C>T, NM_001146260.2:c.197C>T, NM_001146260.1:c.197C>T, NM_001146258.2:c.197C>T, NM_001146258.1:c.197C>T, XM_047429551.1:c.-11C>T, NP_079055.3:p.Pro66Leu, XP_005269209.1:p.Pro66Leu, XP_011537049.1:p.Pro66Leu, NP_001139731.1:p.Pro66Leu, NP_001139732.1:p.Pro66Leu, NP_001139730.1:p.Pro66Leu

Select item 14606347739.

rs1460634773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57599100 (GRCh38)
12:57992883 (GRCh37)
Canonical SPDI:: NC_000012.12:57599099:C:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57599100C>G, NC_000012.11:g.57992883C>G, NM_024779.5:c.549C>G, NM_024779.4:c.549C>G, XM_005269152.4:c.549C>G, XM_005269152.3:c.549C>G, XM_005269152.2:c.549C>G, XM_005269152.1:c.549C>G, XM_011538747.3:c.549C>G, XM_011538747.2:c.549C>G, XM_011538747.1:c.549C>G, NM_001146259.2:c.495C>G, NM_001146259.1:c.495C>G, NM_001146260.2:c.405C>G, NM_001146260.1:c.405C>G, NM_001146258.2:c.549C>G, NM_001146258.1:c.549C>G, XM_047429551.1:c.342C>G, XM_047429552.1:c.39C>G

Select item 145935057510.

rs1459350575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57595193 (GRCh38)
12:57988976 (GRCh37)
Canonical SPDI:: NC_000012.12:57595192:C:T
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57595193C>T, NC_000012.11:g.57988976C>T, NM_024779.5:c.340C>T, NM_024779.4:c.340C>T, XM_005269152.4:c.340C>T, XM_005269152.3:c.340C>T, XM_005269152.2:c.340C>T, XM_005269152.1:c.340C>T, XM_011538747.3:c.340C>T, XM_011538747.2:c.340C>T, XM_011538747.1:c.340C>T, NM_001146259.2:c.286C>T, NM_001146259.1:c.286C>T, NM_001146260.2:c.340C>T, NM_001146260.1:c.340C>T, NM_001146258.2:c.340C>T, NM_001146258.1:c.340C>T, XM_047429551.1:c.133C>T, NP_079055.3:p.Arg114Ter, XP_005269209.1:p.Arg114Ter, XP_011537049.1:p.Arg114Ter, NP_001139731.1:p.Arg96Ter, NP_001139732.1:p.Arg114Ter, NP_001139730.1:p.Arg114Ter, XP_047285507.1:p.Arg45Ter

Select item 145481426111.

rs1454814261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57595183 (GRCh38)
12:57988966 (GRCh37)
Canonical SPDI:: NC_000012.12:57595182:C:A
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57595183C>A, NC_000012.11:g.57988966C>A, NM_024779.5:c.330C>A, NM_024779.4:c.330C>A, XM_005269152.4:c.330C>A, XM_005269152.3:c.330C>A, XM_005269152.2:c.330C>A, XM_005269152.1:c.330C>A, XM_011538747.3:c.330C>A, XM_011538747.2:c.330C>A, XM_011538747.1:c.330C>A, NM_001146259.2:c.276C>A, NM_001146259.1:c.276C>A, NM_001146260.2:c.330C>A, NM_001146260.1:c.330C>A, NM_001146258.2:c.330C>A, NM_001146258.1:c.330C>A, XM_047429551.1:c.123C>A, NP_079055.3:p.Asn110Lys, XP_005269209.1:p.Asn110Lys, XP_011537049.1:p.Asn110Lys, NP_001139731.1:p.Asn92Lys, NP_001139732.1:p.Asn110Lys, NP_001139730.1:p.Asn110Lys, XP_047285507.1:p.Asn41Lys

Select item 145314628112.

rs1453146281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:57595910 (GRCh38)
12:57989693 (GRCh37)
Canonical SPDI:: NC_000012.12:57595909:C:A,NC_000012.12:57595909:C:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.57595910C>A, NC_000012.12:g.57595910C>G, NC_000012.11:g.57989693C>A, NC_000012.11:g.57989693C>G, NM_024779.5:c.392C>A, NM_024779.5:c.392C>G, NM_024779.4:c.392C>A, NM_024779.4:c.392C>G, XM_005269152.4:c.392C>A, XM_005269152.4:c.392C>G, XM_005269152.3:c.392C>A, XM_005269152.3:c.392C>G, XM_005269152.2:c.392C>A, XM_005269152.2:c.392C>G, XM_005269152.1:c.392C>A, XM_005269152.1:c.392C>G, XM_011538747.3:c.392C>A, XM_011538747.3:c.392C>G, XM_011538747.2:c.392C>A, XM_011538747.2:c.392C>G, XM_011538747.1:c.392C>A, XM_011538747.1:c.392C>G, NM_001146259.2:c.338C>A, NM_001146259.2:c.338C>G, NM_001146259.1:c.338C>A, NM_001146259.1:c.338C>G, NM_001146258.2:c.392C>A, NM_001146258.2:c.392C>G, NM_001146258.1:c.392C>A, NM_001146258.1:c.392C>G, XM_047429551.1:c.185C>A, XM_047429551.1:c.185C>G, NP_079055.3:p.Pro131His, NP_079055.3:p.Pro131Arg, XP_005269209.1:p.Pro131His, XP_005269209.1:p.Pro131Arg, XP_011537049.1:p.Pro131His, XP_011537049.1:p.Pro131Arg, NP_001139731.1:p.Pro113His, NP_001139731.1:p.Pro113Arg, NP_001139730.1:p.Pro131His, NP_001139730.1:p.Pro131Arg, XP_047285507.1:p.Pro62His, XP_047285507.1:p.Pro62Arg

Select item 144357147213.

rs1443571472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57601341 (GRCh38)
12:57995124 (GRCh37)
Canonical SPDI:: NC_000012.12:57601340:A:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57601341A>G, NC_000012.11:g.57995124A>G, NM_024779.5:c.1178A>G, NM_024779.4:c.1178A>G, XM_005269152.4:c.1139A>G, XM_005269152.3:c.1139A>G, XM_005269152.2:c.1139A>G, XM_005269152.1:c.1139A>G, NM_001146259.2:c.1124A>G, NM_001146259.1:c.1124A>G, NM_001146260.2:c.1034A>G, NM_001146260.1:c.1034A>G, NM_001146258.2:c.1178A>G, NM_001146258.1:c.1178A>G, XM_047429551.1:c.971A>G, XM_047429552.1:c.668A>G, NP_079055.3:p.Lys393Arg, XP_005269209.1:p.Lys380Arg, NP_001139731.1:p.Lys375Arg, NP_001139732.1:p.Lys345Arg, NP_001139730.1:p.Lys393Arg, XP_047285507.1:p.Lys324Arg, XP_047285508.1:p.Lys223Arg

Select item 144313120814.

rs1443131208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57595945 (GRCh38)
12:57989728 (GRCh37)
Canonical SPDI:: NC_000012.12:57595944:A:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57595945A>G, NC_000012.11:g.57989728A>G, NM_024779.5:c.427A>G, NM_024779.4:c.427A>G, XM_005269152.4:c.427A>G, XM_005269152.3:c.427A>G, XM_005269152.2:c.427A>G, XM_005269152.1:c.427A>G, XM_011538747.3:c.427A>G, XM_011538747.2:c.427A>G, XM_011538747.1:c.427A>G, NM_001146259.2:c.373A>G, NM_001146259.1:c.373A>G, NM_001146258.2:c.427A>G, NM_001146258.1:c.427A>G, XM_047429551.1:c.220A>G, NP_079055.3:p.Ile143Val, XP_005269209.1:p.Ile143Val, XP_011537049.1:p.Ile143Val, NP_001139731.1:p.Ile125Val, NP_001139730.1:p.Ile143Val, XP_047285507.1:p.Ile74Val

Select item 143614487515.

rs1436144875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57595199 (GRCh38)
12:57988982 (GRCh37)
Canonical SPDI:: NC_000012.12:57595198:G:A
Gene:: PIP4K2C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57595199G>A, NC_000012.11:g.57988982G>A, NM_024779.5:c.346G>A, NM_024779.4:c.346G>A, XM_005269152.4:c.346G>A, XM_005269152.3:c.346G>A, XM_005269152.2:c.346G>A, XM_005269152.1:c.346G>A, XM_011538747.3:c.346G>A, XM_011538747.2:c.346G>A, XM_011538747.1:c.346G>A, NM_001146259.2:c.292G>A, NM_001146259.1:c.292G>A, NM_001146260.2:c.346G>A, NM_001146260.1:c.346G>A, NM_001146258.2:c.346G>A, NM_001146258.1:c.346G>A, XM_047429551.1:c.139G>A, NP_079055.3:p.Gly116Ser, XP_005269209.1:p.Gly116Ser, XP_011537049.1:p.Gly116Ser, NP_001139731.1:p.Gly98Ser, NP_001139732.1:p.Gly116Ser, NP_001139730.1:p.Gly116Ser, XP_047285507.1:p.Gly47Ser

Select item 143446633316.

rs1434466333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57600330 (GRCh38)
12:57994113 (GRCh37)
Canonical SPDI:: NC_000012.12:57600329:G:T
Gene:: PIP4K2C (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57600330G>T, NC_000012.11:g.57994113G>T, NM_024779.5:c.706G>T, NM_024779.4:c.706G>T, XM_005269152.4:c.667G>T, XM_005269152.3:c.667G>T, XM_005269152.2:c.667G>T, XM_005269152.1:c.667G>T, NM_001146259.2:c.652G>T, NM_001146259.1:c.652G>T, NM_001146260.2:c.562G>T, NM_001146260.1:c.562G>T, NM_001146258.2:c.706G>T, NM_001146258.1:c.706G>T, XM_047429551.1:c.499G>T, XM_047429552.1:c.196G>T, NP_079055.3:p.Glu236Ter, XP_005269209.1:p.Glu223Ter, NP_001139731.1:p.Glu218Ter, NP_001139732.1:p.Glu188Ter, NP_001139730.1:p.Glu236Ter, XP_047285507.1:p.Glu167Ter, XP_047285508.1:p.Glu66Ter

Select item 143314240117.

rs1433142401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:57591436 (GRCh38)
12:57985219 (GRCh37)
Canonical SPDI:: NC_000012.12:57591435:T:A,NC_000012.12:57591435:T:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.003821/7 (Korea1K)
HGVS:: NC_000012.12:g.57591436T>A, NC_000012.12:g.57591436T>G, NC_000012.11:g.57985219T>A, NC_000012.11:g.57985219T>G, NM_024779.5:c.147T>A, NM_024779.5:c.147T>G, NM_024779.4:c.147T>A, NM_024779.4:c.147T>G, XM_005269152.4:c.147T>A, XM_005269152.4:c.147T>G, XM_005269152.3:c.147T>A, XM_005269152.3:c.147T>G, XM_005269152.2:c.147T>A, XM_005269152.2:c.147T>G, XM_005269152.1:c.147T>A, XM_005269152.1:c.147T>G, XM_011538747.3:c.147T>A, XM_011538747.3:c.147T>G, XM_011538747.2:c.147T>A, XM_011538747.2:c.147T>G, XM_011538747.1:c.147T>A, XM_011538747.1:c.147T>G, NM_001146259.2:c.147T>A, NM_001146259.2:c.147T>G, NM_001146259.1:c.147T>A, NM_001146259.1:c.147T>G, NM_001146260.2:c.147T>A, NM_001146260.2:c.147T>G, NM_001146260.1:c.147T>A, NM_001146260.1:c.147T>G, NM_001146258.2:c.147T>A, NM_001146258.2:c.147T>G, NM_001146258.1:c.147T>A, NM_001146258.1:c.147T>G

Select item 143027531818.

rs1430275318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:57601340 (GRCh38)
12:57995123 (GRCh37)
Canonical SPDI:: NC_000012.12:57601339:A:C
Gene:: PIP4K2C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57601340A>C, NC_000012.11:g.57995123A>C, NM_024779.5:c.1177A>C, NM_024779.4:c.1177A>C, XM_005269152.4:c.1138A>C, XM_005269152.3:c.1138A>C, XM_005269152.2:c.1138A>C, XM_005269152.1:c.1138A>C, NM_001146259.2:c.1123A>C, NM_001146259.1:c.1123A>C, NM_001146260.2:c.1033A>C, NM_001146260.1:c.1033A>C, NM_001146258.2:c.1177A>C, NM_001146258.1:c.1177A>C, XM_047429551.1:c.970A>C, XM_047429552.1:c.667A>C, NP_079055.3:p.Lys393Gln, XP_005269209.1:p.Lys380Gln, NP_001139731.1:p.Lys375Gln, NP_001139732.1:p.Lys345Gln, NP_001139730.1:p.Lys393Gln, XP_047285507.1:p.Lys324Gln, XP_047285508.1:p.Lys223Gln

Select item 142880847719.

rs1428808477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57601606 (GRCh38)
12:57995389 (GRCh37)
Canonical SPDI:: NC_000012.12:57601605:A:G
Gene:: PIP4K2C (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57601606A>G, NC_000012.11:g.57995389A>G, NM_024779.5:c.1266A>G, NM_024779.4:c.1266A>G, XM_005269152.4:c.1227A>G, XM_005269152.3:c.1227A>G, XM_005269152.2:c.1227A>G, XM_005269152.1:c.1227A>G, NM_001146259.2:c.1212A>G, NM_001146259.1:c.1212A>G, NM_001146260.2:c.1122A>G, NM_001146260.1:c.1122A>G, NM_001146258.2:c.1266A>G, NM_001146258.1:c.1266A>G, XM_047429551.1:c.1059A>G, XM_047429552.1:c.756A>G

Select item 142842731120.

rs1428427311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57596003 (GRCh38)
12:57989786 (GRCh37)
Canonical SPDI:: NC_000012.12:57596002:T:C
Gene:: PIP4K2C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57596003T>C, NC_000012.11:g.57989786T>C, NM_024779.5:c.485T>C, NM_024779.4:c.485T>C, XM_005269152.4:c.485T>C, XM_005269152.3:c.485T>C, XM_005269152.2:c.485T>C, XM_005269152.1:c.485T>C, XM_011538747.3:c.485T>C, XM_011538747.2:c.485T>C, XM_011538747.1:c.485T>C, NM_001146259.2:c.431T>C, NM_001146259.1:c.431T>C, NM_001146258.2:c.485T>C, NM_001146258.1:c.485T>C, XM_047429551.1:c.278T>C, NP_079055.3:p.Met162Thr, XP_005269209.1:p.Met162Thr, XP_011537049.1:p.Met162Thr, NP_001139731.1:p.Met144Thr, NP_001139730.1:p.Met162Thr, XP_047285507.1:p.Met93Thr

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