SNP Links for Protein (Select 31542242) - SNP

Links from Protein

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Select item 14906316431.

rs1490631643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35085704 (GRCh38)
14:35554910 (GRCh37)
Canonical SPDI:: NC_000014.9:35085703:T:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_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.35085704T>C, NC_000014.8:g.35554910T>C, XM_005267782.5:c.1248A>G, XM_005267782.4:c.1248A>G, XM_005267782.3:c.1248A>G, XM_005267782.2:c.1248A>G, XM_005267782.1:c.1248A>G, NM_017917.4:c.1248A>G, NM_017917.3:c.1248A>G, NM_017917.2:c.1248A>G, XM_024449639.2:c.1092A>G, XM_024449639.1:c.1092A>G, XM_024449638.2:c.1155A>G, XM_024449638.1:c.1155A>G, NM_001305156.2:c.918A>G, NM_001305156.1:c.918A>G, NR_130972.2:n.1202A>G, NR_130972.1:n.1447A>G, NM_001305155.2:c.918A>G, NM_001305155.1:c.918A>G

Select item 14883291762.

rs1488329176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35099324 (GRCh38)
14:35568530 (GRCh37)
Canonical SPDI:: NC_000014.9:35099323:T:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35099324T>C, NC_000014.8:g.35568530T>C, XM_005267782.5:c.634A>G, XM_005267782.4:c.634A>G, XM_005267782.3:c.634A>G, XM_005267782.2:c.634A>G, XM_005267782.1:c.634A>G, NM_017917.4:c.634A>G, NM_017917.3:c.634A>G, NM_017917.2:c.634A>G, XM_024449639.2:c.478A>G, XM_024449639.1:c.478A>G, XM_024449638.2:c.541A>G, XM_024449638.1:c.541A>G, NM_001305156.2:c.304A>G, NM_001305156.1:c.304A>G, NR_130972.2:n.725A>G, NR_130972.1:n.970A>G, NM_001305155.2:c.304A>G, NM_001305155.1:c.304A>G, XM_047431517.1:c.634A>G, XP_005267839.1:p.Lys212Glu, NP_060387.2:p.Lys212Glu, XP_024305407.1:p.Lys160Glu, XP_024305406.1:p.Lys181Glu, NP_001292085.1:p.Lys102Glu, NP_001292084.1:p.Lys102Glu, XP_047287473.1:p.Lys212Glu

Select item 14882632103.

rs1488263210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:35108173 (GRCh38)
14:35577379 (GRCh37)
Canonical SPDI:: NC_000014.9:35108172:G:A
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.35108173G>A, NC_000014.8:g.35577379G>A, XM_005267782.5:c.468C>T, XM_005267782.4:c.468C>T, XM_005267782.3:c.468C>T, XM_005267782.2:c.468C>T, XM_005267782.1:c.468C>T, NM_017917.4:c.468C>T, NM_017917.3:c.468C>T, NM_017917.2:c.468C>T, XM_024449639.2:c.312C>T, XM_024449639.1:c.312C>T, XM_024449638.2:c.375C>T, XM_024449638.1:c.375C>T, NM_001305156.2:c.138C>T, NM_001305156.1:c.138C>T, NR_130972.2:n.559C>T, NR_130972.1:n.804C>T, NM_001305155.2:c.138C>T, NM_001305155.1:c.138C>T, XM_047431517.1:c.468C>T

Select item 14867984884.

rs1486798488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:35096730 (GRCh38)
14:35565936 (GRCh37)
Canonical SPDI:: NC_000014.9:35096729:G:T
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.35096730G>T, NC_000014.8:g.35565936G>T, XM_005267782.5:c.741C>A, XM_005267782.4:c.741C>A, XM_005267782.3:c.741C>A, XM_005267782.2:c.741C>A, XM_005267782.1:c.741C>A, NM_017917.4:c.741C>A, NM_017917.3:c.741C>A, NM_017917.2:c.741C>A, XM_024449639.2:c.585C>A, XM_024449639.1:c.585C>A, XM_024449638.2:c.648C>A, XM_024449638.1:c.648C>A, NM_001305156.2:c.411C>A, NM_001305156.1:c.411C>A, NR_130972.2:n.832C>A, NR_130972.1:n.1077C>A, NM_001305155.2:c.411C>A, NM_001305155.1:c.411C>A, XM_047431517.1:c.741C>A, XP_005267839.1:p.Ser247Arg, NP_060387.2:p.Ser247Arg, XP_024305407.1:p.Ser195Arg, XP_024305406.1:p.Ser216Arg, NP_001292085.1:p.Ser137Arg, NP_001292084.1:p.Ser137Arg, XP_047287473.1:p.Ser247Arg

Select item 14850041855.

rs1485004185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:35096590 (GRCh38)
14:35565796 (GRCh37)
Canonical SPDI:: NC_000014.9:35096589:C:G
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35096590C>G, NC_000014.8:g.35565796C>G, XM_005267782.5:c.806G>C, XM_005267782.4:c.806G>C, XM_005267782.3:c.806G>C, XM_005267782.2:c.806G>C, XM_005267782.1:c.806G>C, NM_017917.4:c.806G>C, NM_017917.3:c.806G>C, NM_017917.2:c.806G>C, XM_024449639.2:c.650G>C, XM_024449639.1:c.650G>C, XM_024449638.2:c.713G>C, XM_024449638.1:c.713G>C, NM_001305156.2:c.476G>C, NM_001305156.1:c.476G>C, NR_130972.2:n.897G>C, NR_130972.1:n.1142G>C, NM_001305155.2:c.476G>C, NM_001305155.1:c.476G>C, XM_047431517.1:c.806G>C, XP_005267839.1:p.Trp269Ser, NP_060387.2:p.Trp269Ser, XP_024305407.1:p.Trp217Ser, XP_024305406.1:p.Trp238Ser, NP_001292085.1:p.Trp159Ser, NP_001292084.1:p.Trp159Ser, XP_047287473.1:p.Trp269Ser

Select item 14840424406.

rs1484042440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35116638 (GRCh38)
14:35585844 (GRCh37)
Canonical SPDI:: NC_000014.9:35116637:T:C
Gene:: PPP2R3C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000014.9:g.35116638T>C, NC_000014.8:g.35585844T>C, XM_005267782.5:c.158A>G, XM_005267782.4:c.158A>G, XM_005267782.3:c.158A>G, XM_005267782.2:c.158A>G, XM_005267782.1:c.158A>G, NM_017917.4:c.158A>G, NM_017917.3:c.158A>G, NM_017917.2:c.158A>G, XM_024449638.2:c.65A>G, XM_024449638.1:c.65A>G, XM_047431517.1:c.158A>G, XP_005267839.1:p.Tyr53Cys, NP_060387.2:p.Tyr53Cys, XP_024305406.1:p.Tyr22Cys, XP_047287473.1:p.Tyr53Cys

Select item 14826827037.

rs1482682703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35116715 (GRCh38)
14:35585921 (GRCh37)
Canonical SPDI:: NC_000014.9:35116714:T:C
Gene:: PPP2R3C (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35116715T>C, NC_000014.8:g.35585921T>C, XM_005267782.5:c.81A>G, XM_005267782.4:c.81A>G, XM_005267782.3:c.81A>G, XM_005267782.2:c.81A>G, XM_005267782.1:c.81A>G, NM_017917.4:c.81A>G, NM_017917.3:c.81A>G, NM_017917.2:c.81A>G, XM_024449638.2:c.-13A>G, XM_024449638.1:c.-13A>G, XM_047431517.1:c.81A>G

Select item 14760654888.

rs1476065488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:35110584 (GRCh38)
14:35579790 (GRCh37)
Canonical SPDI:: NC_000014.9:35110583:A:T
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35110584A>T, NC_000014.8:g.35579790A>T, XM_005267782.5:c.232T>A, XM_005267782.4:c.232T>A, XM_005267782.3:c.232T>A, XM_005267782.2:c.232T>A, XM_005267782.1:c.232T>A, NM_017917.4:c.232T>A, NM_017917.3:c.232T>A, NM_017917.2:c.232T>A, XM_024449639.2:c.76T>A, XM_024449639.1:c.76T>A, XM_024449638.2:c.139T>A, XM_024449638.1:c.139T>A, NM_001305156.2:c.-99T>A, NM_001305156.1:c.-99T>A, NR_130972.2:n.323T>A, NR_130972.1:n.568T>A, NM_001305155.2:c.-99T>A, NM_001305155.1:c.-99T>A, XM_047431517.1:c.232T>A, NR_110415.1:n.587A>T, XP_005267839.1:p.Ser78Thr, NP_060387.2:p.Ser78Thr, XP_024305407.1:p.Ser26Thr, XP_024305406.1:p.Ser47Thr, XP_047287473.1:p.Ser78Thr

Select item 14712373869.

rs1471237386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35091170 (GRCh38)
14:35560376 (GRCh37)
Canonical SPDI:: NC_000014.9:35091169:T:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.35091170T>C, NC_000014.8:g.35560376T>C, XM_005267782.5:c.1013A>G, XM_005267782.4:c.1013A>G, XM_005267782.3:c.1013A>G, XM_005267782.2:c.1013A>G, XM_005267782.1:c.1013A>G, NM_017917.4:c.1013A>G, NM_017917.3:c.1013A>G, NM_017917.2:c.1013A>G, XM_024449639.2:c.857A>G, XM_024449639.1:c.857A>G, XM_024449638.2:c.920A>G, XM_024449638.1:c.920A>G, NM_001305156.2:c.683A>G, NM_001305156.1:c.683A>G, NR_130972.2:n.967A>G, NR_130972.1:n.1212A>G, NM_001305155.2:c.683A>G, NM_001305155.1:c.683A>G, XP_005267839.1:p.Glu338Gly, NP_060387.2:p.Glu338Gly, XP_024305407.1:p.Glu286Gly, XP_024305406.1:p.Glu307Gly, NP_001292085.1:p.Glu228Gly, NP_001292084.1:p.Glu228Gly

Select item 146809096910.

rs1468090969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:35096717 (GRCh38)
14:35565923 (GRCh37)
Canonical SPDI:: NC_000014.9:35096716:A:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.35096717A>C, NC_000014.8:g.35565923A>C, XM_005267782.5:c.754T>G, XM_005267782.4:c.754T>G, XM_005267782.3:c.754T>G, XM_005267782.2:c.754T>G, XM_005267782.1:c.754T>G, NM_017917.4:c.754T>G, NM_017917.3:c.754T>G, NM_017917.2:c.754T>G, XM_024449639.2:c.598T>G, XM_024449639.1:c.598T>G, XM_024449638.2:c.661T>G, XM_024449638.1:c.661T>G, NM_001305156.2:c.424T>G, NM_001305156.1:c.424T>G, NR_130972.2:n.845T>G, NR_130972.1:n.1090T>G, NM_001305155.2:c.424T>G, NM_001305155.1:c.424T>G, XM_047431517.1:c.754T>G, XP_005267839.1:p.Leu252Val, NP_060387.2:p.Leu252Val, XP_024305407.1:p.Leu200Val, XP_024305406.1:p.Leu221Val, NP_001292085.1:p.Leu142Val, NP_001292084.1:p.Leu142Val, XP_047287473.1:p.Leu252Val

Select item 146671150011.

rs1466711500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:35088001 (GRCh38)
14:35557207 (GRCh37)
Canonical SPDI:: NC_000014.9:35088000:C:T
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.35088001C>T, NC_000014.8:g.35557207C>T, XM_005267782.5:c.1123G>A, XM_005267782.4:c.1123G>A, XM_005267782.3:c.1123G>A, XM_005267782.2:c.1123G>A, XM_005267782.1:c.1123G>A, NM_017917.4:c.1123G>A, NM_017917.3:c.1123G>A, NM_017917.2:c.1123G>A, XM_024449639.2:c.967G>A, XM_024449639.1:c.967G>A, XM_024449638.2:c.1030G>A, XM_024449638.1:c.1030G>A, NM_001305156.2:c.793G>A, NM_001305156.1:c.793G>A, NR_130972.2:n.1077G>A, NR_130972.1:n.1322G>A, NM_001305155.2:c.793G>A, NM_001305155.1:c.793G>A, XP_005267839.1:p.Glu375Lys, NP_060387.2:p.Glu375Lys, XP_024305407.1:p.Glu323Lys, XP_024305406.1:p.Glu344Lys, NP_001292085.1:p.Glu265Lys, NP_001292084.1:p.Glu265Lys

Select item 146666756312.

rs1466667563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:35116627 (GRCh38)
14:35585833 (GRCh37)
Canonical SPDI:: NC_000014.9:35116626:G:A
Gene:: PPP2R3C (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.35116627G>A, NC_000014.8:g.35585833G>A, XM_005267782.5:c.169C>T, XM_005267782.4:c.169C>T, XM_005267782.3:c.169C>T, XM_005267782.2:c.169C>T, XM_005267782.1:c.169C>T, NM_017917.4:c.169C>T, NM_017917.3:c.169C>T, NM_017917.2:c.169C>T, XM_024449638.2:c.76C>T, XM_024449638.1:c.76C>T, XM_047431517.1:c.169C>T, XP_005267839.1:p.Pro57Ser, NP_060387.2:p.Pro57Ser, XP_024305406.1:p.Pro26Ser, XP_047287473.1:p.Pro57Ser

Select item 146651944813.

rs1466519448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:35091202 (GRCh38)
14:35560408 (GRCh37)
Canonical SPDI:: NC_000014.9:35091201:A:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,terminator_codon_variant,stop_lost,non_coding_transcript_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.35091202A>C, NC_000014.8:g.35560408A>C, XM_005267782.5:c.981T>G, XM_005267782.4:c.981T>G, XM_005267782.3:c.981T>G, XM_005267782.2:c.981T>G, XM_005267782.1:c.981T>G, NM_017917.4:c.981T>G, NM_017917.3:c.981T>G, NM_017917.2:c.981T>G, XM_024449639.2:c.825T>G, XM_024449639.1:c.825T>G, XM_024449638.2:c.888T>G, XM_024449638.1:c.888T>G, NM_001305156.2:c.651T>G, NM_001305156.1:c.651T>G, NR_130972.2:n.935T>G, NR_130972.1:n.1180T>G, NM_001305155.2:c.651T>G, NM_001305155.1:c.651T>G, XM_047431517.1:c.844T>G, XP_005267839.1:p.Tyr327Ter, NP_060387.2:p.Tyr327Ter, XP_024305407.1:p.Tyr275Ter, XP_024305406.1:p.Tyr296Ter, NP_001292085.1:p.Tyr217Ter, NP_001292084.1:p.Tyr217Ter, XP_047287473.1:p.Ter282Glu

Select item 146590168214.

rs1465901682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35116630 (GRCh38)
14:35585836 (GRCh37)
Canonical SPDI:: NC_000014.9:35116629:T:C
Gene:: PPP2R3C (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35116630T>C, NC_000014.8:g.35585836T>C, XM_005267782.5:c.166A>G, XM_005267782.4:c.166A>G, XM_005267782.3:c.166A>G, XM_005267782.2:c.166A>G, XM_005267782.1:c.166A>G, NM_017917.4:c.166A>G, NM_017917.3:c.166A>G, NM_017917.2:c.166A>G, XM_024449638.2:c.73A>G, XM_024449638.1:c.73A>G, XM_047431517.1:c.166A>G, XP_005267839.1:p.Ile56Val, NP_060387.2:p.Ile56Val, XP_024305406.1:p.Ile25Val, XP_047287473.1:p.Ile56Val

Select item 146281285715.

rs1462812857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35085726 (GRCh38)
14:35554932 (GRCh37)
Canonical SPDI:: NC_000014.9:35085725:T:C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.35085726T>C, NC_000014.8:g.35554932T>C, XM_005267782.5:c.1226A>G, XM_005267782.4:c.1226A>G, XM_005267782.3:c.1226A>G, XM_005267782.2:c.1226A>G, XM_005267782.1:c.1226A>G, NM_017917.4:c.1226A>G, NM_017917.3:c.1226A>G, NM_017917.2:c.1226A>G, XM_024449639.2:c.1070A>G, XM_024449639.1:c.1070A>G, XM_024449638.2:c.1133A>G, XM_024449638.1:c.1133A>G, NM_001305156.2:c.896A>G, NM_001305156.1:c.896A>G, NR_130972.2:n.1180A>G, NR_130972.1:n.1425A>G, NM_001305155.2:c.896A>G, NM_001305155.1:c.896A>G, XP_005267839.1:p.Gln409Arg, NP_060387.2:p.Gln409Arg, XP_024305407.1:p.Gln357Arg, XP_024305406.1:p.Gln378Arg, NP_001292085.1:p.Gln299Arg, NP_001292084.1:p.Gln299Arg

Select item 146227014816.

rs1462270148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:35108209 (GRCh38)
14:35577415 (GRCh37)
Canonical SPDI:: NC_000014.9:35108208:A:T
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35108209A>T, NC_000014.8:g.35577415A>T, XM_005267782.5:c.432T>A, XM_005267782.4:c.432T>A, XM_005267782.3:c.432T>A, XM_005267782.2:c.432T>A, XM_005267782.1:c.432T>A, NM_017917.4:c.432T>A, NM_017917.3:c.432T>A, NM_017917.2:c.432T>A, XM_024449639.2:c.276T>A, XM_024449639.1:c.276T>A, XM_024449638.2:c.339T>A, XM_024449638.1:c.339T>A, NM_001305156.2:c.102T>A, NM_001305156.1:c.102T>A, NR_130972.2:n.523T>A, NR_130972.1:n.768T>A, NM_001305155.2:c.102T>A, NM_001305155.1:c.102T>A, XM_047431517.1:c.432T>A

Select item 145952096217.

rs1459520962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35110576 (GRCh38)
14:35579782 (GRCh37)
Canonical SPDI:: NC_000014.9:35110575:A:G
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35110576A>G, NC_000014.8:g.35579782A>G, XM_005267782.5:c.240T>C, XM_005267782.4:c.240T>C, XM_005267782.3:c.240T>C, XM_005267782.2:c.240T>C, XM_005267782.1:c.240T>C, NM_017917.4:c.240T>C, NM_017917.3:c.240T>C, NM_017917.2:c.240T>C, XM_024449639.2:c.84T>C, XM_024449639.1:c.84T>C, XM_024449638.2:c.147T>C, XM_024449638.1:c.147T>C, NM_001305156.2:c.-91T>C, NM_001305156.1:c.-91T>C, NR_130972.2:n.331T>C, NR_130972.1:n.576T>C, NM_001305155.2:c.-91T>C, NM_001305155.1:c.-91T>C, XM_047431517.1:c.240T>C, NR_110415.1:n.579A>G

Select item 145236582218.

rs1452365822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35085668 (GRCh38)
14:35554874 (GRCh37)
Canonical SPDI:: NC_000014.9:35085667:A:G
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.35085668A>G, NC_000014.8:g.35554874A>G, XM_005267782.5:c.1284T>C, XM_005267782.4:c.1284T>C, XM_005267782.3:c.1284T>C, XM_005267782.2:c.1284T>C, XM_005267782.1:c.1284T>C, NM_017917.4:c.1284T>C, NM_017917.3:c.1284T>C, NM_017917.2:c.1284T>C, XM_024449639.2:c.1128T>C, XM_024449639.1:c.1128T>C, XM_024449638.2:c.1191T>C, XM_024449638.1:c.1191T>C, NM_001305156.2:c.954T>C, NM_001305156.1:c.954T>C, NR_130972.2:n.1238T>C, NR_130972.1:n.1483T>C, NM_001305155.2:c.954T>C, NM_001305155.1:c.954T>C

Select item 145038889219.

rs1450388892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35096588 (GRCh38)
14:35565794 (GRCh37)
Canonical SPDI:: NC_000014.9:35096587:A:G
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.35096588A>G, NC_000014.8:g.35565794A>G, XM_005267782.5:c.808T>C, XM_005267782.4:c.808T>C, XM_005267782.3:c.808T>C, XM_005267782.2:c.808T>C, XM_005267782.1:c.808T>C, NM_017917.4:c.808T>C, NM_017917.3:c.808T>C, NM_017917.2:c.808T>C, XM_024449639.2:c.652T>C, XM_024449639.1:c.652T>C, XM_024449638.2:c.715T>C, XM_024449638.1:c.715T>C, NM_001305156.2:c.478T>C, NM_001305156.1:c.478T>C, NR_130972.2:n.899T>C, NR_130972.1:n.1144T>C, NM_001305155.2:c.478T>C, NM_001305155.1:c.478T>C, XM_047431517.1:c.808T>C, XP_005267839.1:p.Phe270Leu, NP_060387.2:p.Phe270Leu, XP_024305407.1:p.Phe218Leu, XP_024305406.1:p.Phe239Leu, NP_001292085.1:p.Phe160Leu, NP_001292084.1:p.Phe160Leu, XP_047287473.1:p.Phe270Leu

Select item 145021843320.

rs1450218433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:35121952 (GRCh38)
14:35591158 (GRCh37)
Canonical SPDI:: NC_000014.9:35121951:C:G,NC_000014.9:35121951:C:T
Gene:: PRORP (Varview), PPP2R3C (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.35121952C>G, NC_000014.9:g.35121952C>T, NC_000014.8:g.35591158C>G, NC_000014.8:g.35591158C>T, XM_005267782.5:c.8G>C, XM_005267782.5:c.8G>A, XM_005267782.4:c.8G>C, XM_005267782.4:c.8G>A, XM_005267782.3:c.8G>C, XM_005267782.3:c.8G>A, XM_005267782.2:c.8G>C, XM_005267782.2:c.8G>A, XM_005267782.1:c.8G>C, XM_005267782.1:c.8G>A, NM_017917.4:c.8G>C, NM_017917.4:c.8G>A, NM_017917.3:c.8G>C, NM_017917.3:c.8G>A, NM_017917.2:c.8G>C, NM_017917.2:c.8G>A, XM_011537410.3:c.-844C>G, XM_011537410.3:c.-844C>T, XM_017021836.2:c.-844C>G, XM_017021836.2:c.-844C>T, XM_024449638.2:c.-88G>C, XM_024449638.2:c.-88G>A, XM_024449638.1:c.-88G>C, XM_024449638.1:c.-88G>A, NM_001305156.2:c.-195G>C, NM_001305156.2:c.-195G>A, NM_001305156.1:c.-195G>C, NM_001305156.1:c.-195G>A, NR_130972.2:n.227G>C, NR_130972.2:n.227G>A, NR_130972.1:n.472G>C, NR_130972.1:n.472G>A, NM_001305155.2:c.-195G>C, NM_001305155.2:c.-195G>A, NM_001305155.1:c.-195G>C, NM_001305155.1:c.-195G>A, XM_047431992.1:c.-395C>G, XM_047431992.1:c.-395C>T, XM_047431996.1:c.-395C>G, XM_047431996.1:c.-395C>T, XM_047431517.1:c.8G>C, XM_047431517.1:c.8G>A, XP_005267839.1:p.Trp3Ser, XP_005267839.1:p.Trp3Ter, NP_060387.2:p.Trp3Ser, NP_060387.2:p.Trp3Ter, XP_047287473.1:p.Trp3Ser, XP_047287473.1:p.Trp3Ter

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