SNP Links for Protein (Select 153792466) - SNP

Links from Protein

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Select item 14901413901.

rs1490141390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:9141156 (GRCh38)
8:8998666 (GRCh37)
Canonical SPDI:: NC_000008.11:9141155:A:C,NC_000008.11:9141155:A:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9141156A>C, NC_000008.11:g.9141156A>T, NC_000008.10:g.8998666A>C, NC_000008.10:g.8998666A>T, NG_028089.1:g.15487T>G, NG_028089.1:g.15487T>A, NM_024607.4:c.496T>G, NM_024607.4:c.496T>A, NM_024607.3:c.496T>G, NM_024607.3:c.496T>A, NM_001201329.2:c.496T>G, NM_001201329.2:c.496T>A, NM_001201329.1:c.496T>G, NM_001201329.1:c.496T>A, NW_018654717.1:g.4210474T>G, NW_018654717.1:g.4210474T>A, XM_006716253.4:c.496T>G, XM_006716253.4:c.496T>A, XM_006716253.3:c.496T>G, XM_006716253.3:c.496T>A, XM_006716253.2:c.496T>G, XM_006716253.2:c.496T>A, XM_006716253.1:c.496T>G, XM_006716253.1:c.496T>A, XM_047422235.1:c.496T>G, XM_047422235.1:c.496T>A, NP_078883.2:p.Phe166Val, NP_078883.2:p.Phe166Ile, NP_001188258.1:p.Phe166Val, NP_001188258.1:p.Phe166Ile, XP_006716316.1:p.Phe166Val, XP_006716316.1:p.Phe166Ile, XP_047278191.1:p.Phe166Val, XP_047278191.1:p.Phe166Ile

Select item 14845739022.

rs1484573902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:9141062 (GRCh38)
8:8998572 (GRCh37)
Canonical SPDI:: NC_000008.11:9141061:C:G
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141062C>G, NC_000008.10:g.8998572C>G, NG_028089.1:g.15581G>C, NM_024607.4:c.590G>C, NM_024607.3:c.590G>C, NM_001201329.2:c.590G>C, NM_001201329.1:c.590G>C, NW_018654717.1:g.4210568G>C, XM_006716253.4:c.590G>C, XM_006716253.3:c.590G>C, XM_006716253.2:c.590G>C, XM_006716253.1:c.590G>C, XM_047422235.1:c.590G>C, NP_078883.2:p.Ser197Thr, NP_001188258.1:p.Ser197Thr, XP_006716316.1:p.Ser197Thr, XP_047278191.1:p.Ser197Thr

Select item 14845132793.

rs1484513279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:9141631 (GRCh38)
8:8999141 (GRCh37)
Canonical SPDI:: NC_000008.11:9141630:C:G,NC_000008.11:9141630:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.9141631C>G, NC_000008.11:g.9141631C>T, NC_000008.10:g.8999141C>G, NC_000008.10:g.8999141C>T, NG_028089.1:g.15012G>C, NG_028089.1:g.15012G>A, NM_024607.4:c.21G>C, NM_024607.4:c.21G>A, NM_024607.3:c.21G>C, NM_024607.3:c.21G>A, NM_001201329.2:c.21G>C, NM_001201329.2:c.21G>A, NM_001201329.1:c.21G>C, NM_001201329.1:c.21G>A, NW_018654717.1:g.4209999G>C, NW_018654717.1:g.4209999G>A, XM_006716253.4:c.21G>C, XM_006716253.4:c.21G>A, XM_006716253.3:c.21G>C, XM_006716253.3:c.21G>A, XM_006716253.2:c.21G>C, XM_006716253.2:c.21G>A, XM_006716253.1:c.21G>C, XM_006716253.1:c.21G>A, XM_047422235.1:c.21G>C, XM_047422235.1:c.21G>A, XR_007060810.1:n.213C>G, XR_007060810.1:n.213C>T, NP_078883.2:p.Glu7Asp, NP_001188258.1:p.Glu7Asp, XP_006716316.1:p.Glu7Asp, XP_047278191.1:p.Glu7Asp

Select item 14825147654.

rs1482514765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:9141555 (GRCh38)
8:8999065 (GRCh37)
Canonical SPDI:: NC_000008.11:9141554:G:A,NC_000008.11:9141554:G:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.9141555G>A, NC_000008.11:g.9141555G>T, NC_000008.10:g.8999065G>A, NC_000008.10:g.8999065G>T, NG_028089.1:g.15088C>T, NG_028089.1:g.15088C>A, NM_024607.4:c.97C>T, NM_024607.4:c.97C>A, NM_024607.3:c.97C>T, NM_024607.3:c.97C>A, NM_001201329.2:c.97C>T, NM_001201329.2:c.97C>A, NM_001201329.1:c.97C>T, NM_001201329.1:c.97C>A, NW_018654717.1:g.4210075C>T, NW_018654717.1:g.4210075C>A, XM_006716253.4:c.97C>T, XM_006716253.4:c.97C>A, XM_006716253.3:c.97C>T, XM_006716253.3:c.97C>A, XM_006716253.2:c.97C>T, XM_006716253.2:c.97C>A, XM_006716253.1:c.97C>T, XM_006716253.1:c.97C>A, XM_047422235.1:c.97C>T, XM_047422235.1:c.97C>A, XR_007060810.1:n.137G>A, XR_007060810.1:n.137G>T, NP_078883.2:p.Pro33Ser, NP_078883.2:p.Pro33Thr, NP_001188258.1:p.Pro33Ser, NP_001188258.1:p.Pro33Thr, XP_006716316.1:p.Pro33Ser, XP_006716316.1:p.Pro33Thr, XP_047278191.1:p.Pro33Ser, XP_047278191.1:p.Pro33Thr

Select item 14808701445.

rs1480870144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9141595 (GRCh38)
8:8999105 (GRCh37)
Canonical SPDI:: NC_000008.11:9141594:T:C
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9141595T>C, NC_000008.10:g.8999105T>C, NG_028089.1:g.15048A>G, NM_024607.4:c.57A>G, NM_024607.3:c.57A>G, NM_001201329.2:c.57A>G, NM_001201329.1:c.57A>G, NW_018654717.1:g.4210035A>G, XM_006716253.4:c.57A>G, XM_006716253.3:c.57A>G, XM_006716253.2:c.57A>G, XM_006716253.1:c.57A>G, XM_047422235.1:c.57A>G, XR_007060810.1:n.177T>C

Select item 14808106726.

rs1480810672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:9141542 (GRCh38)
8:8999052 (GRCh37)
Canonical SPDI:: NC_000008.11:9141541:C:G
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141542C>G, NC_000008.10:g.8999052C>G, NG_028089.1:g.15101G>C, NM_024607.4:c.110G>C, NM_024607.3:c.110G>C, NM_001201329.2:c.110G>C, NM_001201329.1:c.110G>C, NW_018654717.1:g.4210088G>C, XM_006716253.4:c.110G>C, XM_006716253.3:c.110G>C, XM_006716253.2:c.110G>C, XM_006716253.1:c.110G>C, XM_047422235.1:c.110G>C, XR_007060810.1:n.124C>G, NP_078883.2:p.Cys37Ser, NP_001188258.1:p.Cys37Ser, XP_006716316.1:p.Cys37Ser, XP_047278191.1:p.Cys37Ser

Select item 14766519527.

rs1476651952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:9141237 (GRCh38)
8:8998747 (GRCh37)
Canonical SPDI:: NC_000008.11:9141236:C:G,NC_000008.11:9141236:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.9141237C>G, NC_000008.11:g.9141237C>T, NC_000008.10:g.8998747C>G, NC_000008.10:g.8998747C>T, NG_028089.1:g.15406G>C, NG_028089.1:g.15406G>A, NM_024607.4:c.415G>C, NM_024607.4:c.415G>A, NM_024607.3:c.415G>C, NM_024607.3:c.415G>A, NM_001201329.2:c.415G>C, NM_001201329.2:c.415G>A, NM_001201329.1:c.415G>C, NM_001201329.1:c.415G>A, NW_018654717.1:g.4210393G>C, NW_018654717.1:g.4210393G>A, XM_006716253.4:c.415G>C, XM_006716253.4:c.415G>A, XM_006716253.3:c.415G>C, XM_006716253.3:c.415G>A, XM_006716253.2:c.415G>C, XM_006716253.2:c.415G>A, XM_006716253.1:c.415G>C, XM_006716253.1:c.415G>A, XM_047422235.1:c.415G>C, XM_047422235.1:c.415G>A, NP_078883.2:p.Val139Leu, NP_078883.2:p.Val139Met, NP_001188258.1:p.Val139Leu, NP_001188258.1:p.Val139Met, XP_006716316.1:p.Val139Leu, XP_006716316.1:p.Val139Met, XP_047278191.1:p.Val139Leu, XP_047278191.1:p.Val139Met

Select item 14761520878.

rs1476152087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:9141366 (GRCh38)
8:8998876 (GRCh37)
Canonical SPDI:: NC_000008.11:9141365:G:A,NC_000008.11:9141365:G:C
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141366G>A, NC_000008.11:g.9141366G>C, NC_000008.10:g.8998876G>A, NC_000008.10:g.8998876G>C, NG_028089.1:g.15277C>T, NG_028089.1:g.15277C>G, NM_024607.4:c.286C>T, NM_024607.4:c.286C>G, NM_024607.3:c.286C>T, NM_024607.3:c.286C>G, NM_001201329.2:c.286C>T, NM_001201329.2:c.286C>G, NM_001201329.1:c.286C>T, NM_001201329.1:c.286C>G, NW_018654717.1:g.4210264C>T, NW_018654717.1:g.4210264C>G, XM_006716253.4:c.286C>T, XM_006716253.4:c.286C>G, XM_006716253.3:c.286C>T, XM_006716253.3:c.286C>G, XM_006716253.2:c.286C>T, XM_006716253.2:c.286C>G, XM_006716253.1:c.286C>T, XM_006716253.1:c.286C>G, XM_047422235.1:c.286C>T, XM_047422235.1:c.286C>G, NP_078883.2:p.Leu96Val, NP_001188258.1:p.Leu96Val, XP_006716316.1:p.Leu96Val, XP_047278191.1:p.Leu96Val

Select item 14740173609.

rs1474017360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:9140987 (GRCh38)
8:8998497 (GRCh37)
Canonical SPDI:: NC_000008.11:9140986:C:A,NC_000008.11:9140986:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.9140987C>A, NC_000008.11:g.9140987C>T, NC_000008.10:g.8998497C>A, NC_000008.10:g.8998497C>T, NG_028089.1:g.15656G>T, NG_028089.1:g.15656G>A, NM_024607.4:c.665G>T, NM_024607.4:c.665G>A, NM_024607.3:c.665G>T, NM_024607.3:c.665G>A, NM_001201329.2:c.665G>T, NM_001201329.2:c.665G>A, NM_001201329.1:c.665G>T, NM_001201329.1:c.665G>A, NW_018654717.1:g.4210643G>T, NW_018654717.1:g.4210643G>A, XM_006716253.4:c.665G>T, XM_006716253.4:c.665G>A, XM_006716253.3:c.665G>T, XM_006716253.3:c.665G>A, XM_006716253.2:c.665G>T, XM_006716253.2:c.665G>A, XM_006716253.1:c.665G>T, XM_006716253.1:c.665G>A, XM_047422235.1:c.665G>T, XM_047422235.1:c.665G>A, NP_078883.2:p.Trp222Leu, NP_078883.2:p.Trp222Ter, NP_001188258.1:p.Trp222Leu, NP_001188258.1:p.Trp222Ter, XP_006716316.1:p.Trp222Leu, XP_006716316.1:p.Trp222Ter, XP_047278191.1:p.Trp222Leu, XP_047278191.1:p.Trp222Ter

Select item 147136287510.

rs1471362875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9141202 (GRCh38)
8:8998712 (GRCh37)
Canonical SPDI:: NC_000008.11:9141201:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141202C>T, NC_000008.10:g.8998712C>T, NG_028089.1:g.15441G>A, NM_024607.4:c.450G>A, NM_024607.3:c.450G>A, NM_001201329.2:c.450G>A, NM_001201329.1:c.450G>A, NW_018654717.1:g.4210428G>A, XM_006716253.4:c.450G>A, XM_006716253.3:c.450G>A, XM_006716253.2:c.450G>A, XM_006716253.1:c.450G>A, XM_047422235.1:c.450G>A

Select item 147054423211.

rs1470544232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9140880 (GRCh38)
8:8998390 (GRCh37)
Canonical SPDI:: NC_000008.11:9140879:G:A
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9140880G>A, NC_000008.10:g.8998390G>A, NG_028089.1:g.15763C>T, NM_024607.4:c.772C>T, NM_024607.3:c.772C>T, NM_001201329.2:c.772C>T, NM_001201329.1:c.772C>T, NW_018654717.1:g.4210750C>T, XM_006716253.4:c.772C>T, XM_006716253.3:c.772C>T, XM_006716253.2:c.772C>T, XM_006716253.1:c.772C>T, XM_047422235.1:c.772C>T, NP_078883.2:p.Gln258Ter, NP_001188258.1:p.Gln258Ter, XP_006716316.1:p.Gln258Ter, XP_047278191.1:p.Gln258Ter

Select item 146976246912.

rs1469762469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9141481 (GRCh38)
8:8998991 (GRCh37)
Canonical SPDI:: NC_000008.11:9141480:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141481C>T, NC_000008.10:g.8998991C>T, NG_028089.1:g.15162G>A, NM_024607.4:c.171G>A, NM_024607.3:c.171G>A, NM_001201329.2:c.171G>A, NM_001201329.1:c.171G>A, NW_018654717.1:g.4210149G>A, XM_006716253.4:c.171G>A, XM_006716253.3:c.171G>A, XM_006716253.2:c.171G>A, XM_006716253.1:c.171G>A, XM_047422235.1:c.171G>A, XR_007060810.1:n.63C>T

Select item 146924728113.

rs1469247281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9141301 (GRCh38)
8:8998811 (GRCh37)
Canonical SPDI:: NC_000008.11:9141300:G:A
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9141301G>A, NC_000008.10:g.8998811G>A, NG_028089.1:g.15342C>T, NM_024607.4:c.351C>T, NM_024607.3:c.351C>T, NM_001201329.2:c.351C>T, NM_001201329.1:c.351C>T, NW_018654717.1:g.4210329C>T, XM_006716253.4:c.351C>T, XM_006716253.3:c.351C>T, XM_006716253.2:c.351C>T, XM_006716253.1:c.351C>T, XM_047422235.1:c.351C>T

Select item 146297922114.

rs1462979221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:9141592 (GRCh38)
8:8999102 (GRCh37)
Canonical SPDI:: NC_000008.11:9141591:C:G,NC_000008.11:9141591:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000008.11:g.9141592C>G, NC_000008.11:g.9141592C>T, NC_000008.10:g.8999102C>G, NC_000008.10:g.8999102C>T, NG_028089.1:g.15051G>C, NG_028089.1:g.15051G>A, NM_024607.4:c.60G>C, NM_024607.4:c.60G>A, NM_024607.3:c.60G>C, NM_024607.3:c.60G>A, NM_001201329.2:c.60G>C, NM_001201329.2:c.60G>A, NM_001201329.1:c.60G>C, NM_001201329.1:c.60G>A, NW_018654717.1:g.4210038G>C, NW_018654717.1:g.4210038G>A, XM_006716253.4:c.60G>C, XM_006716253.4:c.60G>A, XM_006716253.3:c.60G>C, XM_006716253.3:c.60G>A, XM_006716253.2:c.60G>C, XM_006716253.2:c.60G>A, XM_006716253.1:c.60G>C, XM_006716253.1:c.60G>A, XM_047422235.1:c.60G>C, XM_047422235.1:c.60G>A, XR_007060810.1:n.174C>G, XR_007060810.1:n.174C>T, NP_078883.2:p.Glu20Asp, NP_001188258.1:p.Glu20Asp, XP_006716316.1:p.Glu20Asp, XP_047278191.1:p.Glu20Asp

Select item 146293046215.

rs1462930462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9140945 (GRCh38)
8:8998455 (GRCh37)
Canonical SPDI:: NC_000008.11:9140944:T:C
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9140945T>C, NC_000008.10:g.8998455T>C, NG_028089.1:g.15698A>G, NM_024607.4:c.707A>G, NM_024607.3:c.707A>G, NM_001201329.2:c.707A>G, NM_001201329.1:c.707A>G, NW_018654717.1:g.4210685A>G, XM_006716253.4:c.707A>G, XM_006716253.3:c.707A>G, XM_006716253.2:c.707A>G, XM_006716253.1:c.707A>G, XM_047422235.1:c.707A>G, NP_078883.2:p.Glu236Gly, NP_001188258.1:p.Glu236Gly, XP_006716316.1:p.Glu236Gly, XP_047278191.1:p.Glu236Gly

Select item 144515195416.

rs1445151954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9140946 (GRCh38)
8:8998456 (GRCh37)
Canonical SPDI:: NC_000008.11:9140945:C:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9140946C>T, NC_000008.10:g.8998456C>T, NG_028089.1:g.15697G>A, NM_024607.4:c.706G>A, NM_024607.3:c.706G>A, NM_001201329.2:c.706G>A, NM_001201329.1:c.706G>A, NW_018654717.1:g.4210684G>A, XM_006716253.4:c.706G>A, XM_006716253.3:c.706G>A, XM_006716253.2:c.706G>A, XM_006716253.1:c.706G>A, XM_047422235.1:c.706G>A, NP_078883.2:p.Glu236Lys, NP_001188258.1:p.Glu236Lys, XP_006716316.1:p.Glu236Lys, XP_047278191.1:p.Glu236Lys

Select item 143480765417.

rs1434807654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:9141116 (GRCh38)
8:8998626 (GRCh37)
Canonical SPDI:: NC_000008.11:9141115:T:A
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_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_000008.11:g.9141116T>A, NC_000008.10:g.8998626T>A, NG_028089.1:g.15527A>T, NM_024607.4:c.536A>T, NM_024607.3:c.536A>T, NM_001201329.2:c.536A>T, NM_001201329.1:c.536A>T, NW_018654717.1:g.4210514A>T, XM_006716253.4:c.536A>T, XM_006716253.3:c.536A>T, XM_006716253.2:c.536A>T, XM_006716253.1:c.536A>T, XM_047422235.1:c.536A>T, NP_078883.2:p.Tyr179Phe, NP_001188258.1:p.Tyr179Phe, XP_006716316.1:p.Tyr179Phe, XP_047278191.1:p.Tyr179Phe

Select item 142767092218.

rs1427670922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:9141587 (GRCh38)
8:8999097 (GRCh37)
Canonical SPDI:: NC_000008.11:9141586:A:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.9141587A>T, NC_000008.10:g.8999097A>T, NG_028089.1:g.15056T>A, NM_024607.4:c.65T>A, NM_024607.3:c.65T>A, NM_001201329.2:c.65T>A, NM_001201329.1:c.65T>A, NW_018654717.1:g.4210043T>A, XM_006716253.4:c.65T>A, XM_006716253.3:c.65T>A, XM_006716253.2:c.65T>A, XM_006716253.1:c.65T>A, XM_047422235.1:c.65T>A, XR_007060810.1:n.169A>T, NP_078883.2:p.Phe22Tyr, NP_001188258.1:p.Phe22Tyr, XP_006716316.1:p.Phe22Tyr, XP_047278191.1:p.Phe22Tyr

Select item 142466854419.

rs1424668544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:9141473 (GRCh38)
8:8998983 (GRCh37)
Canonical SPDI:: NC_000008.11:9141472:T:G
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.9141473T>G, NC_000008.10:g.8998983T>G, NG_028089.1:g.15170A>C, NM_024607.4:c.179A>C, NM_024607.3:c.179A>C, NM_001201329.2:c.179A>C, NM_001201329.1:c.179A>C, NW_018654717.1:g.4210157A>C, XM_006716253.4:c.179A>C, XM_006716253.3:c.179A>C, XM_006716253.2:c.179A>C, XM_006716253.1:c.179A>C, XM_047422235.1:c.179A>C, XR_007060810.1:n.55T>G, NP_078883.2:p.Lys60Thr, NP_001188258.1:p.Lys60Thr, XP_006716316.1:p.Lys60Thr, XP_047278191.1:p.Lys60Thr

Select item 142154344220.

rs1421543442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9141284 (GRCh38)
8:8998794 (GRCh37)
Canonical SPDI:: NC_000008.11:9141283:T:C
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9141284T>C, NC_000008.10:g.8998794T>C, NG_028089.1:g.15359A>G, NM_024607.4:c.368A>G, NM_024607.3:c.368A>G, NM_001201329.2:c.368A>G, NM_001201329.1:c.368A>G, NW_018654717.1:g.4210346A>G, XM_006716253.4:c.368A>G, XM_006716253.3:c.368A>G, XM_006716253.2:c.368A>G, XM_006716253.1:c.368A>G, XM_047422235.1:c.368A>G, NP_078883.2:p.Asp123Gly, NP_001188258.1:p.Asp123Gly, XP_006716316.1:p.Asp123Gly, XP_047278191.1:p.Asp123Gly

dbSNP

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