SNP Links for Protein (Select 183603931) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 173

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Select item 14869521881.

rs1486952188 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTAC>- [Show Flanks]
Chromosome:: 9:125158369 (GRCh38)
9:127920648 (GRCh37)
Canonical SPDI:: NC_000009.12:125158368:TCTAC:
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000009.12:g.125158369_125158373del, NC_000009.11:g.127920648_127920652del, NM_002721.5:c.247_251del, NM_002721.4:c.247_251del, XM_011518847.4:c.211_215del, XM_011518847.3:c.211_215del, XM_011518847.2:c.211_215del, XM_011518847.1:c.211_215del, NM_001123355.2:c.358_362del, NM_001123355.1:c.358_362del, NM_001123369.2:c.181_185del, NM_001123369.1:c.181_185del, XM_047423568.1:c.145_149del, XM_047423566.1:c.292_296del, XM_047423567.1:c.211_215del, NM_016294.1:c.241_245del, NP_002712.1:p.Val83fs, XP_011517149.1:p.Val71fs, NP_001116827.1:p.Val120fs, NP_001116841.1:p.Val61fs, XP_047279524.1:p.Val49fs, XP_047279522.1:p.Val98fs, XP_047279523.1:p.Val71fs

Select item 14812465582.

rs1481246558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125149782 (GRCh38)
9:127912061 (GRCh37)
Canonical SPDI:: NC_000009.12:125149781:G:A
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.125149782G>A, NC_000009.11:g.127912061G>A, NM_002721.5:c.809C>T, NM_002721.4:c.809C>T, XM_011518847.4:c.773C>T, XM_011518847.3:c.773C>T, XM_011518847.2:c.773C>T, XM_011518847.1:c.773C>T, NM_001123355.2:c.920C>T, NM_001123355.1:c.920C>T, NM_001123369.2:c.743C>T, NM_001123369.1:c.743C>T, XM_047423568.1:c.707C>T, XM_047423566.1:c.854C>T, XM_047423567.1:c.773C>T, NM_016294.1:c.803C>T, NP_002712.1:p.Ser270Leu, XP_011517149.1:p.Ser258Leu, NP_001116827.1:p.Ser307Leu, NP_001116841.1:p.Ser248Leu, XP_047279524.1:p.Ser236Leu, XP_047279522.1:p.Ser285Leu, XP_047279523.1:p.Ser258Leu

Select item 14627685423.

rs1462768542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:125149709 (GRCh38)
9:127911988 (GRCh37)
Canonical SPDI:: NC_000009.12:125149708:A:C
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.125149709A>C, NC_000009.11:g.127911988A>C, NM_002721.5:c.882T>G, NM_002721.4:c.882T>G, XM_011518847.4:c.846T>G, XM_011518847.3:c.846T>G, XM_011518847.2:c.846T>G, XM_011518847.1:c.846T>G, NM_001123355.2:c.993T>G, NM_001123355.1:c.993T>G, NM_001123369.2:c.816T>G, NM_001123369.1:c.816T>G, XM_047423568.1:c.780T>G, XM_047423566.1:c.927T>G, XM_047423567.1:c.846T>G, NM_016294.1:c.876T>G

Select item 14618687874.

rs1461868787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125153656 (GRCh38)
9:127915935 (GRCh37)
Canonical SPDI:: NC_000009.12:125153655:A:G
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125153656A>G, NC_000009.11:g.127915935A>G, NM_002721.5:c.546T>C, NM_002721.4:c.546T>C, XM_011518847.4:c.510T>C, XM_011518847.3:c.510T>C, XM_011518847.2:c.510T>C, XM_011518847.1:c.510T>C, NM_001123355.2:c.657T>C, NM_001123355.1:c.657T>C, NM_001123369.2:c.480T>C, NM_001123369.1:c.480T>C, XM_047423568.1:c.444T>C, XM_047423566.1:c.591T>C, XM_047423567.1:c.510T>C, NM_016294.1:c.540T>C

Select item 14603329815.

rs1460332981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125158297 (GRCh38)
9:127920576 (GRCh37)
Canonical SPDI:: NC_000009.12:125158296:G:A
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.125158297G>A, NC_000009.11:g.127920576G>A, NM_002721.5:c.323C>T, NM_002721.4:c.323C>T, XM_011518847.4:c.287C>T, XM_011518847.3:c.287C>T, XM_011518847.2:c.287C>T, XM_011518847.1:c.287C>T, NM_001123355.2:c.434C>T, NM_001123355.1:c.434C>T, NM_001123369.2:c.257C>T, NM_001123369.1:c.257C>T, XM_047423568.1:c.221C>T, XM_047423566.1:c.368C>T, XM_047423567.1:c.287C>T, NM_016294.1:c.317C>T, NP_002712.1:p.Thr108Ile, XP_011517149.1:p.Thr96Ile, NP_001116827.1:p.Thr145Ile, NP_001116841.1:p.Thr86Ile, XP_047279524.1:p.Thr74Ile, XP_047279522.1:p.Thr123Ile, XP_047279523.1:p.Thr96Ile

Select item 14444969846.

rs1444496984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125158351 (GRCh38)
9:127920630 (GRCh37)
Canonical SPDI:: NC_000009.12:125158350:A:G
Gene:: PPP6C (Varview)
Functional Consequence:: missense_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_000009.12:g.125158351A>G, NC_000009.11:g.127920630A>G, NM_002721.5:c.269T>C, NM_002721.4:c.269T>C, XM_011518847.4:c.233T>C, XM_011518847.3:c.233T>C, XM_011518847.2:c.233T>C, XM_011518847.1:c.233T>C, NM_001123355.2:c.380T>C, NM_001123355.1:c.380T>C, NM_001123369.2:c.203T>C, NM_001123369.1:c.203T>C, XM_047423568.1:c.167T>C, XM_047423566.1:c.314T>C, XM_047423567.1:c.233T>C, NM_016294.1:c.263T>C, NP_002712.1:p.Leu90Ser, XP_011517149.1:p.Leu78Ser, NP_001116827.1:p.Leu127Ser, NP_001116841.1:p.Leu68Ser, XP_047279524.1:p.Leu56Ser, XP_047279522.1:p.Leu105Ser, XP_047279523.1:p.Leu78Ser

Select item 14399199327.

rs1439919932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:125189699 (GRCh38)
9:127951978 (GRCh37)
Canonical SPDI:: NC_000009.12:125189698:T:G
Gene:: PPP6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125189699T>G, NC_000009.11:g.127951978T>G, NM_002721.5:c.20A>C, NM_002721.4:c.20A>C, NM_001123355.2:c.20A>C, NM_001123355.1:c.20A>C, NM_001123369.2:c.20A>C, NM_001123369.1:c.20A>C, XM_047423566.1:c.20A>C, NM_016294.1:c.20A>C, NP_002712.1:p.Asp7Ala, NP_001116827.1:p.Asp7Ala, NP_001116841.1:p.Asp7Ala, XP_047279522.1:p.Asp7Ala

Select item 14396469338.

rs1439646933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:125189686 (GRCh38)
9:127951965 (GRCh37)
Canonical SPDI:: NC_000009.12:125189685:T:C
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.125189686T>C, NC_000009.11:g.127951965T>C, NM_002721.5:c.33A>G, NM_002721.4:c.33A>G, NM_001123355.2:c.33A>G, NM_001123355.1:c.33A>G, NM_001123369.2:c.33A>G, NM_001123369.1:c.33A>G, XM_047423566.1:c.33A>G, NM_016294.1:c.33A>G

Select item 14232132939.

rs1423213293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125153590 (GRCh38)
9:127915869 (GRCh37)
Canonical SPDI:: NC_000009.12:125153589:G:A
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.125153590G>A, NC_000009.11:g.127915869G>A, NM_002721.5:c.612C>T, NM_002721.4:c.612C>T, XM_011518847.4:c.576C>T, XM_011518847.3:c.576C>T, XM_011518847.2:c.576C>T, XM_011518847.1:c.576C>T, NM_001123355.2:c.723C>T, NM_001123355.1:c.723C>T, NM_001123369.2:c.546C>T, NM_001123369.1:c.546C>T, XM_047423568.1:c.510C>T, XM_047423566.1:c.657C>T, XM_047423567.1:c.576C>T, NM_016294.1:c.606C>T

Select item 141938856210.

rs1419388562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:125153740 (GRCh38)
9:127916019 (GRCh37)
Canonical SPDI:: NC_000009.12:125153739:T:A
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.125153740T>A, NC_000009.11:g.127916019T>A, NM_002721.5:c.462A>T, NM_002721.4:c.462A>T, XM_011518847.4:c.426A>T, XM_011518847.3:c.426A>T, XM_011518847.2:c.426A>T, XM_011518847.1:c.426A>T, NM_001123355.2:c.573A>T, NM_001123355.1:c.573A>T, NM_001123369.2:c.396A>T, NM_001123369.1:c.396A>T, XM_047423568.1:c.360A>T, XM_047423566.1:c.507A>T, XM_047423567.1:c.426A>T, NM_016294.1:c.456A>T, NP_002712.1:p.Leu154Phe, XP_011517149.1:p.Leu142Phe, NP_001116827.1:p.Leu191Phe, NP_001116841.1:p.Leu132Phe, XP_047279524.1:p.Leu120Phe, XP_047279522.1:p.Leu169Phe, XP_047279523.1:p.Leu142Phe

Select item 141819721511.

rs1418197215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:125149722 (GRCh38)
9:127912001 (GRCh37)
Canonical SPDI:: NC_000009.12:125149721:T:C
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.125149722T>C, NC_000009.11:g.127912001T>C, NM_002721.5:c.869A>G, NM_002721.4:c.869A>G, XM_011518847.4:c.833A>G, XM_011518847.3:c.833A>G, XM_011518847.2:c.833A>G, XM_011518847.1:c.833A>G, NM_001123355.2:c.980A>G, NM_001123355.1:c.980A>G, NM_001123369.2:c.803A>G, NM_001123369.1:c.803A>G, XM_047423568.1:c.767A>G, XM_047423566.1:c.914A>G, XM_047423567.1:c.833A>G, NM_016294.1:c.863A>G, NP_002712.1:p.Asp290Gly, XP_011517149.1:p.Asp278Gly, NP_001116827.1:p.Asp327Gly, NP_001116841.1:p.Asp268Gly, XP_047279524.1:p.Asp256Gly, XP_047279522.1:p.Asp305Gly, XP_047279523.1:p.Asp278Gly

Select item 141729320212.

rs1417293202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:125158295 (GRCh38)
9:127920574 (GRCh37)
Canonical SPDI:: NC_000009.12:125158294:G:T
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.125158295G>T, NC_000009.11:g.127920574G>T, NM_002721.5:c.325C>A, NM_002721.4:c.325C>A, XM_011518847.4:c.289C>A, XM_011518847.3:c.289C>A, XM_011518847.2:c.289C>A, XM_011518847.1:c.289C>A, NM_001123355.2:c.436C>A, NM_001123355.1:c.436C>A, NM_001123369.2:c.259C>A, NM_001123369.1:c.259C>A, XM_047423568.1:c.223C>A, XM_047423566.1:c.370C>A, XM_047423567.1:c.289C>A, NM_016294.1:c.319C>A, NP_002712.1:p.Leu109Ile, XP_011517149.1:p.Leu97Ile, NP_001116827.1:p.Leu146Ile, NP_001116841.1:p.Leu87Ile, XP_047279524.1:p.Leu75Ile, XP_047279522.1:p.Leu124Ile, XP_047279523.1:p.Leu97Ile

Select item 140276163213.

rs1402761632 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:125153974 (GRCh38)
9:127916253 (GRCh37)
Canonical SPDI:: NC_000009.12:125153973:TTT:TT
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.125153976del, NC_000009.11:g.127916255del, NM_002721.5:c.391del, NM_002721.4:c.391del, XM_011518847.4:c.355del, XM_011518847.3:c.355del, XM_011518847.2:c.355del, XM_011518847.1:c.355del, NM_001123355.2:c.502del, NM_001123355.1:c.502del, NM_001123369.2:c.325del, NM_001123369.1:c.325del, XM_047423568.1:c.289del, XM_047423566.1:c.436del, XM_047423567.1:c.355del, NM_016294.1:c.385del, NP_002712.1:p.Thr131fs, XP_011517149.1:p.Thr119fs, NP_001116827.1:p.Thr168fs, NP_001116841.1:p.Thr109fs, XP_047279524.1:p.Thr97fs, XP_047279522.1:p.Thr146fs, XP_047279523.1:p.Thr119fs

Select item 140182870314.

rs1401828703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:125149713 (GRCh38)
9:127911992 (GRCh37)
Canonical SPDI:: NC_000009.12:125149712:C:T
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125149713C>T, NC_000009.11:g.127911992C>T, NM_002721.5:c.878G>A, NM_002721.4:c.878G>A, XM_011518847.4:c.842G>A, XM_011518847.3:c.842G>A, XM_011518847.2:c.842G>A, XM_011518847.1:c.842G>A, NM_001123355.2:c.989G>A, NM_001123355.1:c.989G>A, NM_001123369.2:c.812G>A, NM_001123369.1:c.812G>A, XM_047423568.1:c.776G>A, XM_047423566.1:c.923G>A, XM_047423567.1:c.842G>A, NM_016294.1:c.872G>A, NP_002712.1:p.Arg293His, XP_011517149.1:p.Arg281His, NP_001116827.1:p.Arg330His, NP_001116841.1:p.Arg271His, XP_047279524.1:p.Arg259His, XP_047279522.1:p.Arg308His, XP_047279523.1:p.Arg281His

Select item 139963332415.

rs1399633324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125189702 (GRCh38)
9:127951981 (GRCh37)
Canonical SPDI:: NC_000009.12:125189701:A:G
Gene:: PPP6C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.125189702A>G, NC_000009.11:g.127951981A>G, NM_002721.5:c.17T>C, NM_002721.4:c.17T>C, NM_001123355.2:c.17T>C, NM_001123355.1:c.17T>C, NM_001123369.2:c.17T>C, NM_001123369.1:c.17T>C, XM_047423566.1:c.17T>C, NM_016294.1:c.17T>C, NP_002712.1:p.Leu6Pro, NP_001116827.1:p.Leu6Pro, NP_001116841.1:p.Leu6Pro, XP_047279522.1:p.Leu6Pro

Select item 139610089216.

rs1396100892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125153633 (GRCh38)
9:127915912 (GRCh37)
Canonical SPDI:: NC_000009.12:125153632:G:A
Gene:: PPP6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125153633G>A, NC_000009.11:g.127915912G>A, NM_002721.5:c.569C>T, NM_002721.4:c.569C>T, XM_011518847.4:c.533C>T, XM_011518847.3:c.533C>T, XM_011518847.2:c.533C>T, XM_011518847.1:c.533C>T, NM_001123355.2:c.680C>T, NM_001123355.1:c.680C>T, NM_001123369.2:c.503C>T, NM_001123369.1:c.503C>T, XM_047423568.1:c.467C>T, XM_047423566.1:c.614C>T, XM_047423567.1:c.533C>T, NM_016294.1:c.563C>T, NP_002712.1:p.Ala190Val, XP_011517149.1:p.Ala178Val, NP_001116827.1:p.Ala227Val, NP_001116841.1:p.Ala168Val, XP_047279524.1:p.Ala156Val, XP_047279522.1:p.Ala205Val, XP_047279523.1:p.Ala178Val

Select item 139364384117.

rs1393643841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:125153916 (GRCh38)
9:127916195 (GRCh37)
Canonical SPDI:: NC_000009.12:125153915:G:A
Gene:: PPP6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125153916G>A, NC_000009.11:g.127916195G>A, NM_002721.5:c.449C>T, NM_002721.4:c.449C>T, XM_011518847.4:c.413C>T, XM_011518847.3:c.413C>T, XM_011518847.2:c.413C>T, XM_011518847.1:c.413C>T, NM_001123355.2:c.560C>T, NM_001123355.1:c.560C>T, NM_001123369.2:c.383C>T, NM_001123369.1:c.383C>T, XM_047423568.1:c.347C>T, XM_047423566.1:c.494C>T, XM_047423567.1:c.413C>T, NM_016294.1:c.443C>T, NP_002712.1:p.Thr150Ile, XP_011517149.1:p.Thr138Ile, NP_001116827.1:p.Thr187Ile, NP_001116841.1:p.Thr128Ile, XP_047279524.1:p.Thr116Ile, XP_047279522.1:p.Thr165Ile, XP_047279523.1:p.Thr138Ile

Select item 138934242518.

rs1389342425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:125149910 (GRCh38)
9:127912189 (GRCh37)
Canonical SPDI:: NC_000009.12:125149909:G:C
Gene:: PPP6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125149910G>C, NC_000009.11:g.127912189G>C, NM_002721.5:c.681C>G, NM_002721.4:c.681C>G, XM_011518847.4:c.645C>G, XM_011518847.3:c.645C>G, XM_011518847.2:c.645C>G, XM_011518847.1:c.645C>G, NM_001123355.2:c.792C>G, NM_001123355.1:c.792C>G, NM_001123369.2:c.615C>G, NM_001123369.1:c.615C>G, XM_047423568.1:c.579C>G, XM_047423566.1:c.726C>G, XM_047423567.1:c.645C>G, NM_016294.1:c.675C>G, NP_002712.1:p.Ile227Met, XP_011517149.1:p.Ile215Met, NP_001116827.1:p.Ile264Met, NP_001116841.1:p.Ile205Met, XP_047279524.1:p.Ile193Met, XP_047279522.1:p.Ile242Met, XP_047279523.1:p.Ile215Met

Select item 137767637719.

rs1377676377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:125158353 (GRCh38)
9:127920632 (GRCh37)
Canonical SPDI:: NC_000009.12:125158352:A:G
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.125158353A>G, NC_000009.11:g.127920632A>G, NM_002721.5:c.267T>C, NM_002721.4:c.267T>C, XM_011518847.4:c.231T>C, XM_011518847.3:c.231T>C, XM_011518847.2:c.231T>C, XM_011518847.1:c.231T>C, NM_001123355.2:c.378T>C, NM_001123355.1:c.378T>C, NM_001123369.2:c.201T>C, NM_001123369.1:c.201T>C, XM_047423568.1:c.165T>C, XM_047423566.1:c.312T>C, XM_047423567.1:c.231T>C, NM_016294.1:c.261T>C

Select item 137255946120.

rs1372559461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:125189646 (GRCh38)
9:127951925 (GRCh37)
Canonical SPDI:: NC_000009.12:125189645:T:G
Gene:: PPP6C (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.125189646T>G, NC_000009.11:g.127951925T>G, NM_002721.5:c.73A>C, NM_002721.4:c.73A>C, NM_001123355.2:c.73A>C, NM_001123355.1:c.73A>C, NM_001123369.2:c.73A>C, NM_001123369.1:c.73A>C, XM_047423566.1:c.73A>C, NM_016294.1:c.73A>C, NP_002712.1:p.Lys25Gln, NP_001116827.1:p.Lys25Gln, NP_001116841.1:p.Lys25Gln, XP_047279522.1:p.Lys25Gln

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