SNP Links for Protein (Select 767946888) - SNP - NCBI

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Links from Protein

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Select item 14915419021.

rs1491541902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCA [Show Flanks]
Chromosome:: 7:102239420 (GRCh38)
7:101882701 (GRCh37)
Canonical SPDI:: NC_000007.14:102239420:CACCA:CACCACCA
Gene:: CUX1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCACCA=0.00013/3 (ALFA)
CAC=0.000036/9 (GnomAD_exomes)
CAC=0.000059/7 (ExAC)
CAC=0.000106/28 (TOPMED)
CAC=0.000121/17 (GnomAD)
CAC=0.00032/4 (GoESP)
HGVS:: NC_000007.14:g.102239423_102239425dup, NC_000007.13:g.101882703_101882705dup, NG_029476.2:g.428520_428522dup, NM_181552.4:c.3726_3728dup, NM_181552.3:c.3726_3728dup, NM_001202543.2:c.3759_3761dup, NM_001202543.1:c.3759_3761dup, NW_003571037.1:g.163753_163755dup, XM_005250150.4:c.3723_3725dup, XM_005250150.3:c.4023_4025dup, XM_005250150.2:c.4023_4025dup, XM_005250150.1:c.4023_4025dup, XM_017011760.3:c.3687_3689dup, XM_017011760.2:c.3687_3689dup, XM_017011760.1:c.3687_3689dup, XM_006715854.3:c.3660_3662dup, XM_006715854.2:c.3960_3962dup, XM_006715854.1:c.3960_3962dup, XM_011515825.3:c.3453_3455dup, XM_011515825.2:c.3453_3455dup, XM_011515825.1:c.3453_3455dup, XM_024446668.2:c.3414_3416dup, XM_024446668.1:c.3714_3716dup, XM_047419908.1:c.3756_3758dup, XM_047419909.1:c.3753_3755dup, XM_047419910.1:c.3750_3752dup, XM_047419906.1:c.3720_3722dup, XM_047419907.1:c.3717_3719dup, XM_047419912.1:c.3693_3695dup, XM_047419913.1:c.3690_3692dup, XM_047419914.1:c.3450_3452dup, XM_047419915.1:c.3447_3449dup, XM_047419911.1:c.3411_3413dup, XM_047419916.1:c.3387_3389dup, XM_047419917.1:c.3384_3386dup, NP_853530.2:p.His1242dup, NP_001189472.1:p.His1253dup, XP_005250207.2:p.His1241dup, XP_016867249.1:p.His1229dup, XP_006715917.2:p.His1220dup, XP_011514127.1:p.His1151dup, XP_024302436.2:p.His1138dup, XP_047275864.1:p.His1252dup, XP_047275865.1:p.His1251dup, XP_047275866.1:p.His1250dup, XP_047275862.1:p.His1240dup, XP_047275863.1:p.His1239dup, XP_047275868.1:p.His1231dup, XP_047275869.1:p.His1230dup, XP_047275870.1:p.His1150dup, XP_047275871.1:p.His1149dup, XP_047275867.1:p.His1137dup, XP_047275872.1:p.His1129dup, XP_047275873.1:p.His1128dup

Select item 14903021622.

rs1490302162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102200104 (GRCh38)
7:101843384 (GRCh37)
Canonical SPDI:: NC_000007.14:102200103:C:T
Gene:: CUX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000007.14:g.102200104C>T, NC_000007.13:g.101843384C>T, NG_029476.2:g.389201C>T, NM_181552.4:c.1994C>T, NM_181552.3:c.1994C>T, NM_001202543.2:c.2027C>T, NM_001202543.1:c.2027C>T, NW_003571037.1:g.124434C>T, XM_005250150.4:c.1994C>T, XM_005250150.3:c.2294C>T, XM_005250150.2:c.2294C>T, XM_005250150.1:c.2294C>T, XM_017011760.3:c.1955C>T, XM_017011760.2:c.1955C>T, XM_017011760.1:c.1955C>T, XM_006715854.3:c.1928C>T, XM_006715854.2:c.2228C>T, XM_006715854.1:c.2228C>T, XM_011515825.3:c.1721C>T, XM_011515825.2:c.1721C>T, XM_011515825.1:c.1721C>T, XM_024446668.2:c.1682C>T, XM_024446668.1:c.1982C>T, XM_047419908.1:c.2027C>T, XM_047419909.1:c.2021C>T, XM_047419910.1:c.2021C>T, XM_047419906.1:c.1988C>T, XM_047419907.1:c.1988C>T, XM_047419912.1:c.1961C>T, XM_047419913.1:c.1961C>T, XM_047419914.1:c.1721C>T, XM_047419915.1:c.1715C>T, XM_047419911.1:c.1682C>T, XM_047419916.1:c.1655C>T, XM_047419917.1:c.1655C>T, NP_853530.2:p.Thr665Ile, NP_001189472.1:p.Thr676Ile, XP_005250207.2:p.Thr665Ile, XP_016867249.1:p.Thr652Ile, XP_006715917.2:p.Thr643Ile, XP_011514127.1:p.Thr574Ile, XP_024302436.2:p.Thr561Ile, XP_047275864.1:p.Thr676Ile, XP_047275865.1:p.Thr674Ile, XP_047275866.1:p.Thr674Ile, XP_047275862.1:p.Thr663Ile, XP_047275863.1:p.Thr663Ile, XP_047275868.1:p.Thr654Ile, XP_047275869.1:p.Thr654Ile, XP_047275870.1:p.Thr574Ile, XP_047275871.1:p.Thr572Ile, XP_047275867.1:p.Thr561Ile, XP_047275872.1:p.Thr552Ile, XP_047275873.1:p.Thr552Ile

Select item 14869036533.

rs1486903653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102248728 (GRCh38)
7:101892008 (GRCh37)
Canonical SPDI:: NC_000007.14:102248727:C:G
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.102248728C>G, NC_000007.13:g.101892008C>G, NG_029476.2:g.437825C>G, NM_181552.4:c.4204C>G, NM_181552.3:c.4204C>G, NM_001202543.2:c.4237C>G, NM_001202543.1:c.4237C>G, NW_003571037.1:g.173058C>G, XM_005250150.4:c.4201C>G, XM_005250150.3:c.4501C>G, XM_005250150.2:c.4501C>G, XM_005250150.1:c.4501C>G, XM_017011760.3:c.4165C>G, XM_017011760.2:c.4165C>G, XM_017011760.1:c.4165C>G, XM_006715854.3:c.4138C>G, XM_006715854.2:c.4438C>G, XM_006715854.1:c.4438C>G, XM_011515825.3:c.3931C>G, XM_011515825.2:c.3931C>G, XM_011515825.1:c.3931C>G, XM_024446668.2:c.3892C>G, XM_024446668.1:c.4192C>G, XM_047419908.1:c.4234C>G, XM_047419909.1:c.4231C>G, XM_047419910.1:c.4228C>G, XM_047419906.1:c.4198C>G, XM_047419907.1:c.4195C>G, XM_047419912.1:c.4171C>G, XM_047419913.1:c.4168C>G, XM_047419914.1:c.3928C>G, XM_047419915.1:c.3925C>G, XM_047419911.1:c.3889C>G, XM_047419916.1:c.3865C>G, XM_047419917.1:c.3862C>G, NP_853530.2:p.Leu1402Val, NP_001189472.1:p.Leu1413Val, XP_005250207.2:p.Leu1401Val, XP_016867249.1:p.Leu1389Val, XP_006715917.2:p.Leu1380Val, XP_011514127.1:p.Leu1311Val, XP_024302436.2:p.Leu1298Val, XP_047275864.1:p.Leu1412Val, XP_047275865.1:p.Leu1411Val, XP_047275866.1:p.Leu1410Val, XP_047275862.1:p.Leu1400Val, XP_047275863.1:p.Leu1399Val, XP_047275868.1:p.Leu1391Val, XP_047275869.1:p.Leu1390Val, XP_047275870.1:p.Leu1310Val, XP_047275871.1:p.Leu1309Val, XP_047275867.1:p.Leu1297Val, XP_047275872.1:p.Leu1289Val, XP_047275873.1:p.Leu1288Val

Select item 14860624274.

rs1486062427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:102249013 (GRCh38)
7:101892293 (GRCh37)
Canonical SPDI:: NC_000007.14:102249012:C:A
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102249013C>A, NC_000007.13:g.101892293C>A, NG_029476.2:g.438110C>A, NM_181552.4:c.4489C>A, NM_181552.3:c.4489C>A, NM_001202543.2:c.4522C>A, NM_001202543.1:c.4522C>A, NW_003571037.1:g.173343C>A, XM_005250150.4:c.4486C>A, XM_005250150.3:c.4786C>A, XM_005250150.2:c.4786C>A, XM_005250150.1:c.4786C>A, XM_017011760.3:c.4450C>A, XM_017011760.2:c.4450C>A, XM_017011760.1:c.4450C>A, XM_006715854.3:c.4423C>A, XM_006715854.2:c.4723C>A, XM_006715854.1:c.4723C>A, XM_011515825.3:c.4216C>A, XM_011515825.2:c.4216C>A, XM_011515825.1:c.4216C>A, XM_024446668.2:c.4177C>A, XM_024446668.1:c.4477C>A, XM_047419908.1:c.4519C>A, XM_047419909.1:c.4516C>A, XM_047419910.1:c.4513C>A, XM_047419906.1:c.4483C>A, XM_047419907.1:c.4480C>A, XM_047419912.1:c.4456C>A, XM_047419913.1:c.4453C>A, XM_047419914.1:c.4213C>A, XM_047419915.1:c.4210C>A, XM_047419911.1:c.4174C>A, XM_047419916.1:c.4150C>A, XM_047419917.1:c.4147C>A

Select item 14860048605.

rs1486004860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:102248652 (GRCh38)
7:101891932 (GRCh37)
Canonical SPDI:: NC_000007.14:102248651:G:A,NC_000007.14:102248651:G:T
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102248652G>A, NC_000007.14:g.102248652G>T, NC_000007.13:g.101891932G>A, NC_000007.13:g.101891932G>T, NG_029476.2:g.437749G>A, NG_029476.2:g.437749G>T, NM_181552.4:c.4128G>A, NM_181552.4:c.4128G>T, NM_181552.3:c.4128G>A, NM_181552.3:c.4128G>T, NM_001202543.2:c.4161G>A, NM_001202543.2:c.4161G>T, NM_001202543.1:c.4161G>A, NM_001202543.1:c.4161G>T, NW_003571037.1:g.172982G>A, NW_003571037.1:g.172982G>T, XM_005250150.4:c.4125G>A, XM_005250150.4:c.4125G>T, XM_005250150.3:c.4425G>A, XM_005250150.3:c.4425G>T, XM_005250150.2:c.4425G>A, XM_005250150.2:c.4425G>T, XM_005250150.1:c.4425G>A, XM_005250150.1:c.4425G>T, XM_017011760.3:c.4089G>A, XM_017011760.3:c.4089G>T, XM_017011760.2:c.4089G>A, XM_017011760.2:c.4089G>T, XM_017011760.1:c.4089G>A, XM_017011760.1:c.4089G>T, XM_006715854.3:c.4062G>A, XM_006715854.3:c.4062G>T, XM_006715854.2:c.4362G>A, XM_006715854.2:c.4362G>T, XM_006715854.1:c.4362G>A, XM_006715854.1:c.4362G>T, XM_011515825.3:c.3855G>A, XM_011515825.3:c.3855G>T, XM_011515825.2:c.3855G>A, XM_011515825.2:c.3855G>T, XM_011515825.1:c.3855G>A, XM_011515825.1:c.3855G>T, XM_024446668.2:c.3816G>A, XM_024446668.2:c.3816G>T, XM_024446668.1:c.4116G>A, XM_024446668.1:c.4116G>T, XM_047419908.1:c.4158G>A, XM_047419908.1:c.4158G>T, XM_047419909.1:c.4155G>A, XM_047419909.1:c.4155G>T, XM_047419910.1:c.4152G>A, XM_047419910.1:c.4152G>T, XM_047419906.1:c.4122G>A, XM_047419906.1:c.4122G>T, XM_047419907.1:c.4119G>A, XM_047419907.1:c.4119G>T, XM_047419912.1:c.4095G>A, XM_047419912.1:c.4095G>T, XM_047419913.1:c.4092G>A, XM_047419913.1:c.4092G>T, XM_047419914.1:c.3852G>A, XM_047419914.1:c.3852G>T, XM_047419915.1:c.3849G>A, XM_047419915.1:c.3849G>T, XM_047419911.1:c.3813G>A, XM_047419911.1:c.3813G>T, XM_047419916.1:c.3789G>A, XM_047419916.1:c.3789G>T, XM_047419917.1:c.3786G>A, XM_047419917.1:c.3786G>T

Select item 14853533516.

rs1485353351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102227580 (GRCh38)
7:101870860 (GRCh37)
Canonical SPDI:: NC_000007.14:102227579:G:A
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102227580G>A, NC_000007.13:g.101870860G>A, NG_029476.2:g.416677G>A, NM_181552.4:c.3344G>A, NM_181552.3:c.3344G>A, NM_001202543.2:c.3377G>A, NM_001202543.1:c.3377G>A, NW_003571037.1:g.151910G>A, XM_005250150.4:c.3341G>A, XM_005250150.3:c.3641G>A, XM_005250150.2:c.3641G>A, XM_005250150.1:c.3641G>A, XM_017011760.3:c.3305G>A, XM_017011760.2:c.3305G>A, XM_017011760.1:c.3305G>A, XM_006715854.3:c.3278G>A, XM_006715854.2:c.3578G>A, XM_006715854.1:c.3578G>A, XM_011515825.3:c.3071G>A, XM_011515825.2:c.3071G>A, XM_011515825.1:c.3071G>A, XM_024446668.2:c.3032G>A, XM_024446668.1:c.3332G>A, XM_047419908.1:c.3374G>A, XM_047419909.1:c.3371G>A, XM_047419910.1:c.3368G>A, XM_047419906.1:c.3338G>A, XM_047419907.1:c.3335G>A, XM_047419912.1:c.3311G>A, XM_047419913.1:c.3308G>A, XM_047419914.1:c.3068G>A, XM_047419915.1:c.3065G>A, XM_047419911.1:c.3029G>A, XM_047419916.1:c.3005G>A, XM_047419917.1:c.3002G>A, NP_853530.2:p.Ser1115Asn, NP_001189472.1:p.Ser1126Asn, XP_005250207.2:p.Ser1114Asn, XP_016867249.1:p.Ser1102Asn, XP_006715917.2:p.Ser1093Asn, XP_011514127.1:p.Ser1024Asn, XP_024302436.2:p.Ser1011Asn, XP_047275864.1:p.Ser1125Asn, XP_047275865.1:p.Ser1124Asn, XP_047275866.1:p.Ser1123Asn, XP_047275862.1:p.Ser1113Asn, XP_047275863.1:p.Ser1112Asn, XP_047275868.1:p.Ser1104Asn, XP_047275869.1:p.Ser1103Asn, XP_047275870.1:p.Ser1023Asn, XP_047275871.1:p.Ser1022Asn, XP_047275867.1:p.Ser1010Asn, XP_047275872.1:p.Ser1002Asn, XP_047275873.1:p.Ser1001Asn

Select item 14852615737.

rs1485261573 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAGAGACTGGCGTTGGGTGG [Show Flanks]
Chromosome:: 7:102197304 (GRCh38)
7:101840585 (GRCh37)
Canonical SPDI:: NC_000007.14:102197304:GGTGAGAGACTGGCGTTGGGTGG:GGTGAGAGACTGGCGTTGGGTGGTGAGAGACTGGCGTTGGGTGG
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGTGAGAGACTGGCGTTGGGTGGTGAGAGACTGGCGTTGGGTGG=0./0 (ALFA)
GGTGAGAGACTGGCGTTGGGT=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102197307_102197327dup, NC_000007.13:g.101840587_101840607dup, NG_029476.2:g.386404_386424dup, NW_003571037.1:g.121637_121657dup

Select item 14851681018.

rs1485168101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102248884 (GRCh38)
7:101892164 (GRCh37)
Canonical SPDI:: NC_000007.14:102248883:A:C
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.102248884A>C, NC_000007.13:g.101892164A>C, NG_029476.2:g.437981A>C, NM_181552.4:c.4360A>C, NM_181552.3:c.4360A>C, NM_001202543.2:c.4393A>C, NM_001202543.1:c.4393A>C, NW_003571037.1:g.173214A>C, XM_005250150.4:c.4357A>C, XM_005250150.3:c.4657A>C, XM_005250150.2:c.4657A>C, XM_005250150.1:c.4657A>C, XM_017011760.3:c.4321A>C, XM_017011760.2:c.4321A>C, XM_017011760.1:c.4321A>C, XM_006715854.3:c.4294A>C, XM_006715854.2:c.4594A>C, XM_006715854.1:c.4594A>C, XM_011515825.3:c.4087A>C, XM_011515825.2:c.4087A>C, XM_011515825.1:c.4087A>C, XM_024446668.2:c.4048A>C, XM_024446668.1:c.4348A>C, XM_047419908.1:c.4390A>C, XM_047419909.1:c.4387A>C, XM_047419910.1:c.4384A>C, XM_047419906.1:c.4354A>C, XM_047419907.1:c.4351A>C, XM_047419912.1:c.4327A>C, XM_047419913.1:c.4324A>C, XM_047419914.1:c.4084A>C, XM_047419915.1:c.4081A>C, XM_047419911.1:c.4045A>C, XM_047419916.1:c.4021A>C, XM_047419917.1:c.4018A>C, NP_853530.2:p.Ser1454Arg, NP_001189472.1:p.Ser1465Arg, XP_005250207.2:p.Ser1453Arg, XP_016867249.1:p.Ser1441Arg, XP_006715917.2:p.Ser1432Arg, XP_011514127.1:p.Ser1363Arg, XP_024302436.2:p.Ser1350Arg, XP_047275864.1:p.Ser1464Arg, XP_047275865.1:p.Ser1463Arg, XP_047275866.1:p.Ser1462Arg, XP_047275862.1:p.Ser1452Arg, XP_047275863.1:p.Ser1451Arg, XP_047275868.1:p.Ser1443Arg, XP_047275869.1:p.Ser1442Arg, XP_047275870.1:p.Ser1362Arg, XP_047275871.1:p.Ser1361Arg, XP_047275867.1:p.Ser1349Arg, XP_047275872.1:p.Ser1341Arg, XP_047275873.1:p.Ser1340Arg

Select item 14817534749.

rs1481753474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102248873 (GRCh38)
7:101892153 (GRCh37)
Canonical SPDI:: NC_000007.14:102248872:C:G
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,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_000007.14:g.102248873C>G, NC_000007.13:g.101892153C>G, NG_029476.2:g.437970C>G, NM_181552.4:c.4349C>G, NM_181552.3:c.4349C>G, NM_001202543.2:c.4382C>G, NM_001202543.1:c.4382C>G, NW_003571037.1:g.173203C>G, XM_005250150.4:c.4346C>G, XM_005250150.3:c.4646C>G, XM_005250150.2:c.4646C>G, XM_005250150.1:c.4646C>G, XM_017011760.3:c.4310C>G, XM_017011760.2:c.4310C>G, XM_017011760.1:c.4310C>G, XM_006715854.3:c.4283C>G, XM_006715854.2:c.4583C>G, XM_006715854.1:c.4583C>G, XM_011515825.3:c.4076C>G, XM_011515825.2:c.4076C>G, XM_011515825.1:c.4076C>G, XM_024446668.2:c.4037C>G, XM_024446668.1:c.4337C>G, XM_047419908.1:c.4379C>G, XM_047419909.1:c.4376C>G, XM_047419910.1:c.4373C>G, XM_047419906.1:c.4343C>G, XM_047419907.1:c.4340C>G, XM_047419912.1:c.4316C>G, XM_047419913.1:c.4313C>G, XM_047419914.1:c.4073C>G, XM_047419915.1:c.4070C>G, XM_047419911.1:c.4034C>G, XM_047419916.1:c.4010C>G, XM_047419917.1:c.4007C>G, NP_853530.2:p.Pro1450Arg, NP_001189472.1:p.Pro1461Arg, XP_005250207.2:p.Pro1449Arg, XP_016867249.1:p.Pro1437Arg, XP_006715917.2:p.Pro1428Arg, XP_011514127.1:p.Pro1359Arg, XP_024302436.2:p.Pro1346Arg, XP_047275864.1:p.Pro1460Arg, XP_047275865.1:p.Pro1459Arg, XP_047275866.1:p.Pro1458Arg, XP_047275862.1:p.Pro1448Arg, XP_047275863.1:p.Pro1447Arg, XP_047275868.1:p.Pro1439Arg, XP_047275869.1:p.Pro1438Arg, XP_047275870.1:p.Pro1358Arg, XP_047275871.1:p.Pro1357Arg, XP_047275867.1:p.Pro1345Arg, XP_047275872.1:p.Pro1337Arg, XP_047275873.1:p.Pro1336Arg

Select item 148127152410.

rs1481271524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:102248844 (GRCh38)
7:101892124 (GRCh37)
Canonical SPDI:: NC_000007.14:102248843:G:A,NC_000007.14:102248843:G:T
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000102/27 (TOPMED)
HGVS:: NC_000007.14:g.102248844G>A, NC_000007.14:g.102248844G>T, NC_000007.13:g.101892124G>A, NC_000007.13:g.101892124G>T, NG_029476.2:g.437941G>A, NG_029476.2:g.437941G>T, NM_181552.4:c.4320G>A, NM_181552.4:c.4320G>T, NM_181552.3:c.4320G>A, NM_181552.3:c.4320G>T, NM_001202543.2:c.4353G>A, NM_001202543.2:c.4353G>T, NM_001202543.1:c.4353G>A, NM_001202543.1:c.4353G>T, NW_003571037.1:g.173174G>A, NW_003571037.1:g.173174G>T, XM_005250150.4:c.4317G>A, XM_005250150.4:c.4317G>T, XM_005250150.3:c.4617G>A, XM_005250150.3:c.4617G>T, XM_005250150.2:c.4617G>A, XM_005250150.2:c.4617G>T, XM_005250150.1:c.4617G>A, XM_005250150.1:c.4617G>T, XM_017011760.3:c.4281G>A, XM_017011760.3:c.4281G>T, XM_017011760.2:c.4281G>A, XM_017011760.2:c.4281G>T, XM_017011760.1:c.4281G>A, XM_017011760.1:c.4281G>T, XM_006715854.3:c.4254G>A, XM_006715854.3:c.4254G>T, XM_006715854.2:c.4554G>A, XM_006715854.2:c.4554G>T, XM_006715854.1:c.4554G>A, XM_006715854.1:c.4554G>T, XM_011515825.3:c.4047G>A, XM_011515825.3:c.4047G>T, XM_011515825.2:c.4047G>A, XM_011515825.2:c.4047G>T, XM_011515825.1:c.4047G>A, XM_011515825.1:c.4047G>T, XM_024446668.2:c.4008G>A, XM_024446668.2:c.4008G>T, XM_024446668.1:c.4308G>A, XM_024446668.1:c.4308G>T, XM_047419908.1:c.4350G>A, XM_047419908.1:c.4350G>T, XM_047419909.1:c.4347G>A, XM_047419909.1:c.4347G>T, XM_047419910.1:c.4344G>A, XM_047419910.1:c.4344G>T, XM_047419906.1:c.4314G>A, XM_047419906.1:c.4314G>T, XM_047419907.1:c.4311G>A, XM_047419907.1:c.4311G>T, XM_047419912.1:c.4287G>A, XM_047419912.1:c.4287G>T, XM_047419913.1:c.4284G>A, XM_047419913.1:c.4284G>T, XM_047419914.1:c.4044G>A, XM_047419914.1:c.4044G>T, XM_047419915.1:c.4041G>A, XM_047419915.1:c.4041G>T, XM_047419911.1:c.4005G>A, XM_047419911.1:c.4005G>T, XM_047419916.1:c.3981G>A, XM_047419916.1:c.3981G>T, XM_047419917.1:c.3978G>A, XM_047419917.1:c.3978G>T

Select item 148052302911.

rs1480523029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101816075 (GRCh38)
7:101459355 (GRCh37)
Canonical SPDI:: NC_000007.14:101816074:T:C
Gene:: CUX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_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_000007.14:g.101816075T>C, NC_000007.13:g.101459355T>C, NG_029476.2:g.5172T>C, NM_001913.5:c.45T>C, NM_001913.4:c.45T>C, NM_001913.3:c.45T>C, NM_181500.4:c.45T>C, NM_181500.3:c.45T>C, NM_181500.2:c.45T>C, NM_001202544.3:c.45T>C, NM_001202544.2:c.45T>C, NM_001202544.1:c.45T>C, NM_001202546.3:c.45T>C, NM_001202546.2:c.45T>C, NM_001202546.1:c.45T>C, NM_001202545.3:c.45T>C, NM_001202545.2:c.45T>C, NM_001202545.1:c.45T>C, NM_001202543.2:c.45T>C, NM_001202543.1:c.45T>C, XM_017011760.3:c.45T>C, XM_017011760.2:c.45T>C, XM_017011760.1:c.45T>C, XM_011515825.3:c.45T>C, XM_011515825.2:c.45T>C, XM_011515825.1:c.45T>C, XM_047419908.1:c.45T>C, XM_047419909.1:c.45T>C, XM_047419910.1:c.45T>C, XM_047419912.1:c.45T>C, XM_047419913.1:c.45T>C, XM_047419914.1:c.45T>C, XM_047419915.1:c.45T>C, XM_047419916.1:c.45T>C, XM_047419917.1:c.45T>C

Select item 147871791312.

rs1478717913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102189854 (GRCh38)
7:101833134 (GRCh37)
Canonical SPDI:: NC_000007.14:102189853:G:A
Gene:: CUX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102189854G>A, NC_000007.13:g.101833134G>A, NG_029476.2:g.378951G>A, NM_001913.5:c.1092G>A, NM_001913.4:c.1092G>A, NM_001913.3:c.1092G>A, NM_181552.4:c.1059G>A, NM_181552.3:c.1059G>A, NM_181500.4:c.1086G>A, NM_181500.3:c.1086G>A, NM_181500.2:c.1086G>A, NM_001202544.3:c.1044G>A, NM_001202544.2:c.1044G>A, NM_001202544.1:c.1044G>A, NM_001202546.3:c.975G>A, NM_001202546.2:c.975G>A, NM_001202546.1:c.975G>A, NM_001202545.3:c.954G>A, NM_001202545.2:c.954G>A, NM_001202545.1:c.954G>A, NM_001202543.2:c.1092G>A, NM_001202543.1:c.1092G>A, NW_003571037.1:g.114184G>A, XM_005250150.4:c.1059G>A, XM_005250150.3:c.1359G>A, XM_005250150.2:c.1359G>A, XM_005250150.1:c.1359G>A, XM_005250154.4:c.1059G>A, XM_005250154.3:c.1359G>A, XM_005250154.2:c.1359G>A, XM_005250154.1:c.1359G>A, XM_017011760.3:c.1086G>A, XM_017011760.2:c.1086G>A, XM_017011760.1:c.1086G>A, XM_006715854.3:c.1059G>A, XM_006715854.2:c.1359G>A, XM_006715854.1:c.1359G>A, XM_011515825.3:c.1092G>A, XM_011515825.2:c.1092G>A, XM_011515825.1:c.1092G>A, XM_024446668.2:c.1053G>A, XM_024446668.1:c.1353G>A, XM_047419908.1:c.1092G>A, XM_047419909.1:c.1086G>A, XM_047419910.1:c.1086G>A, XM_047419906.1:c.1053G>A, XM_047419907.1:c.1053G>A, XM_047419912.1:c.1092G>A, XM_047419913.1:c.1092G>A, XM_047419914.1:c.1092G>A, XM_047419915.1:c.1086G>A, XM_047419911.1:c.1053G>A, XM_047419916.1:c.1092G>A, XM_047419917.1:c.1092G>A

Select item 147818362713.

rs1478183627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102239579 (GRCh38)
7:101882859 (GRCh37)
Canonical SPDI:: NC_000007.14:102239578:C:T
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.102239579C>T, NC_000007.13:g.101882859C>T, NG_029476.2:g.428676C>T, NM_181552.4:c.3882C>T, NM_181552.3:c.3882C>T, NM_001202543.2:c.3915C>T, NM_001202543.1:c.3915C>T, NW_003571037.1:g.163909C>T, XM_005250150.4:c.3879C>T, XM_005250150.3:c.4179C>T, XM_005250150.2:c.4179C>T, XM_005250150.1:c.4179C>T, XM_017011760.3:c.3843C>T, XM_017011760.2:c.3843C>T, XM_017011760.1:c.3843C>T, XM_006715854.3:c.3816C>T, XM_006715854.2:c.4116C>T, XM_006715854.1:c.4116C>T, XM_011515825.3:c.3609C>T, XM_011515825.2:c.3609C>T, XM_011515825.1:c.3609C>T, XM_024446668.2:c.3570C>T, XM_024446668.1:c.3870C>T, XM_047419908.1:c.3912C>T, XM_047419909.1:c.3909C>T, XM_047419910.1:c.3906C>T, XM_047419906.1:c.3876C>T, XM_047419907.1:c.3873C>T, XM_047419912.1:c.3849C>T, XM_047419913.1:c.3846C>T, XM_047419914.1:c.3606C>T, XM_047419915.1:c.3603C>T, XM_047419911.1:c.3567C>T, XM_047419916.1:c.3543C>T, XM_047419917.1:c.3540C>T

Select item 147553136914.

rs1475531369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102248719 (GRCh38)
7:101891999 (GRCh37)
Canonical SPDI:: NC_000007.14:102248718:C:G
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000082/11 (GnomAD)
G=0.000156/1 (1000Genomes)
G=0.000181/48 (TOPMED)
HGVS:: NC_000007.14:g.102248719C>G, NC_000007.13:g.101891999C>G, NG_029476.2:g.437816C>G, NM_181552.4:c.4195C>G, NM_181552.3:c.4195C>G, NM_001202543.2:c.4228C>G, NM_001202543.1:c.4228C>G, NW_003571037.1:g.173049C>G, XM_005250150.4:c.4192C>G, XM_005250150.3:c.4492C>G, XM_005250150.2:c.4492C>G, XM_005250150.1:c.4492C>G, XM_017011760.3:c.4156C>G, XM_017011760.2:c.4156C>G, XM_017011760.1:c.4156C>G, XM_006715854.3:c.4129C>G, XM_006715854.2:c.4429C>G, XM_006715854.1:c.4429C>G, XM_011515825.3:c.3922C>G, XM_011515825.2:c.3922C>G, XM_011515825.1:c.3922C>G, XM_024446668.2:c.3883C>G, XM_024446668.1:c.4183C>G, XM_047419908.1:c.4225C>G, XM_047419909.1:c.4222C>G, XM_047419910.1:c.4219C>G, XM_047419906.1:c.4189C>G, XM_047419907.1:c.4186C>G, XM_047419912.1:c.4162C>G, XM_047419913.1:c.4159C>G, XM_047419914.1:c.3919C>G, XM_047419915.1:c.3916C>G, XM_047419911.1:c.3880C>G, XM_047419916.1:c.3856C>G, XM_047419917.1:c.3853C>G, NP_853530.2:p.Pro1399Ala, NP_001189472.1:p.Pro1410Ala, XP_005250207.2:p.Pro1398Ala, XP_016867249.1:p.Pro1386Ala, XP_006715917.2:p.Pro1377Ala, XP_011514127.1:p.Pro1308Ala, XP_024302436.2:p.Pro1295Ala, XP_047275864.1:p.Pro1409Ala, XP_047275865.1:p.Pro1408Ala, XP_047275866.1:p.Pro1407Ala, XP_047275862.1:p.Pro1397Ala, XP_047275863.1:p.Pro1396Ala, XP_047275868.1:p.Pro1388Ala, XP_047275869.1:p.Pro1387Ala, XP_047275870.1:p.Pro1307Ala, XP_047275871.1:p.Pro1306Ala, XP_047275867.1:p.Pro1294Ala, XP_047275872.1:p.Pro1286Ala, XP_047275873.1:p.Pro1285Ala

Select item 147541659815.

rs1475416598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:102248418 (GRCh38)
7:101891698 (GRCh37)
Canonical SPDI:: NC_000007.14:102248417:G:T
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.102248418G>T, NC_000007.13:g.101891698G>T, NG_029476.2:g.437515G>T, NM_181552.4:c.3894G>T, NM_181552.3:c.3894G>T, NM_001202543.2:c.3927G>T, NM_001202543.1:c.3927G>T, NW_003571037.1:g.172748G>T, XM_005250150.4:c.3891G>T, XM_005250150.3:c.4191G>T, XM_005250150.2:c.4191G>T, XM_005250150.1:c.4191G>T, XM_017011760.3:c.3855G>T, XM_017011760.2:c.3855G>T, XM_017011760.1:c.3855G>T, XM_006715854.3:c.3828G>T, XM_006715854.2:c.4128G>T, XM_006715854.1:c.4128G>T, XM_011515825.3:c.3621G>T, XM_011515825.2:c.3621G>T, XM_011515825.1:c.3621G>T, XM_024446668.2:c.3582G>T, XM_024446668.1:c.3882G>T, XM_047419908.1:c.3924G>T, XM_047419909.1:c.3921G>T, XM_047419910.1:c.3918G>T, XM_047419906.1:c.3888G>T, XM_047419907.1:c.3885G>T, XM_047419912.1:c.3861G>T, XM_047419913.1:c.3858G>T, XM_047419914.1:c.3618G>T, XM_047419915.1:c.3615G>T, XM_047419911.1:c.3579G>T, XM_047419916.1:c.3555G>T, XM_047419917.1:c.3552G>T

Select item 147457213616.

rs1474572136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102248788 (GRCh38)
7:101892068 (GRCh37)
Canonical SPDI:: NC_000007.14:102248787:A:G
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102248788A>G, NC_000007.13:g.101892068A>G, NG_029476.2:g.437885A>G, NM_181552.4:c.4264A>G, NM_181552.3:c.4264A>G, NM_001202543.2:c.4297A>G, NM_001202543.1:c.4297A>G, NW_003571037.1:g.173118A>G, XM_005250150.4:c.4261A>G, XM_005250150.3:c.4561A>G, XM_005250150.2:c.4561A>G, XM_005250150.1:c.4561A>G, XM_017011760.3:c.4225A>G, XM_017011760.2:c.4225A>G, XM_017011760.1:c.4225A>G, XM_006715854.3:c.4198A>G, XM_006715854.2:c.4498A>G, XM_006715854.1:c.4498A>G, XM_011515825.3:c.3991A>G, XM_011515825.2:c.3991A>G, XM_011515825.1:c.3991A>G, XM_024446668.2:c.3952A>G, XM_024446668.1:c.4252A>G, XM_047419908.1:c.4294A>G, XM_047419909.1:c.4291A>G, XM_047419910.1:c.4288A>G, XM_047419906.1:c.4258A>G, XM_047419907.1:c.4255A>G, XM_047419912.1:c.4231A>G, XM_047419913.1:c.4228A>G, XM_047419914.1:c.3988A>G, XM_047419915.1:c.3985A>G, XM_047419911.1:c.3949A>G, XM_047419916.1:c.3925A>G, XM_047419917.1:c.3922A>G, NP_853530.2:p.Thr1422Ala, NP_001189472.1:p.Thr1433Ala, XP_005250207.2:p.Thr1421Ala, XP_016867249.1:p.Thr1409Ala, XP_006715917.2:p.Thr1400Ala, XP_011514127.1:p.Thr1331Ala, XP_024302436.2:p.Thr1318Ala, XP_047275864.1:p.Thr1432Ala, XP_047275865.1:p.Thr1431Ala, XP_047275866.1:p.Thr1430Ala, XP_047275862.1:p.Thr1420Ala, XP_047275863.1:p.Thr1419Ala, XP_047275868.1:p.Thr1411Ala, XP_047275869.1:p.Thr1410Ala, XP_047275870.1:p.Thr1330Ala, XP_047275871.1:p.Thr1329Ala, XP_047275867.1:p.Thr1317Ala, XP_047275872.1:p.Thr1309Ala, XP_047275873.1:p.Thr1308Ala

Select item 147311588517.

rs1473115885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102115235 (GRCh38)
7:101758515 (GRCh37)
Canonical SPDI:: NC_000007.14:102115234:T:C
Gene:: CUX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.102115235T>C, NC_000007.13:g.101758515T>C, NG_029476.2:g.304332T>C, NM_001913.5:c.669T>C, NM_001913.4:c.669T>C, NM_001913.3:c.669T>C, NM_181552.4:c.636T>C, NM_181552.3:c.636T>C, NM_181500.4:c.669T>C, NM_181500.3:c.669T>C, NM_181500.2:c.669T>C, NM_001202544.3:c.621T>C, NM_001202544.2:c.621T>C, NM_001202544.1:c.621T>C, NM_001202546.3:c.558T>C, NM_001202546.2:c.558T>C, NM_001202546.1:c.558T>C, NM_001202545.3:c.531T>C, NM_001202545.2:c.531T>C, NM_001202545.1:c.531T>C, NM_001202543.2:c.669T>C, NM_001202543.1:c.669T>C, NW_003571037.1:g.39565T>C, XM_005250150.4:c.636T>C, XM_005250150.3:c.936T>C, XM_005250150.2:c.936T>C, XM_005250150.1:c.936T>C, XM_005250154.4:c.636T>C, XM_005250154.3:c.936T>C, XM_005250154.2:c.936T>C, XM_005250154.1:c.936T>C, XM_017011760.3:c.669T>C, XM_017011760.2:c.669T>C, XM_017011760.1:c.669T>C, XM_006715854.3:c.636T>C, XM_006715854.2:c.936T>C, XM_006715854.1:c.936T>C, XM_011515825.3:c.669T>C, XM_011515825.2:c.669T>C, XM_011515825.1:c.669T>C, XM_024446668.2:c.636T>C, XM_024446668.1:c.936T>C, XM_047419908.1:c.669T>C, XM_047419909.1:c.669T>C, XM_047419910.1:c.669T>C, XM_047419906.1:c.636T>C, XM_047419907.1:c.636T>C, XM_047419912.1:c.669T>C, XM_047419913.1:c.669T>C, XM_047419914.1:c.669T>C, XM_047419915.1:c.669T>C, XM_047419911.1:c.636T>C, XM_047419916.1:c.669T>C, XM_047419917.1:c.669T>C

Select item 147053068818.

rs1470530688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101816083 (GRCh38)
7:101459363 (GRCh37)
Canonical SPDI:: NC_000007.14:101816082:A:G
Gene:: CUX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101816083A>G, NC_000007.13:g.101459363A>G, NG_029476.2:g.5180A>G, NM_001913.5:c.53A>G, NM_001913.4:c.53A>G, NM_001913.3:c.53A>G, NM_181500.4:c.53A>G, NM_181500.3:c.53A>G, NM_181500.2:c.53A>G, NM_001202544.3:c.53A>G, NM_001202544.2:c.53A>G, NM_001202544.1:c.53A>G, NM_001202546.3:c.53A>G, NM_001202546.2:c.53A>G, NM_001202546.1:c.53A>G, NM_001202545.3:c.53A>G, NM_001202545.2:c.53A>G, NM_001202545.1:c.53A>G, NM_001202543.2:c.53A>G, NM_001202543.1:c.53A>G, XM_017011760.3:c.53A>G, XM_017011760.2:c.53A>G, XM_017011760.1:c.53A>G, XM_011515825.3:c.53A>G, XM_011515825.2:c.53A>G, XM_011515825.1:c.53A>G, XM_047419908.1:c.53A>G, XM_047419909.1:c.53A>G, XM_047419910.1:c.53A>G, XM_047419912.1:c.53A>G, XM_047419913.1:c.53A>G, XM_047419914.1:c.53A>G, XM_047419915.1:c.53A>G, XM_047419916.1:c.53A>G, XM_047419917.1:c.53A>G, NP_001904.2:p.Gln18Arg, NP_852477.1:p.Gln18Arg, NP_001189473.1:p.Gln18Arg, NP_001189475.1:p.Gln18Arg, NP_001189474.1:p.Gln18Arg, NP_001189472.1:p.Gln18Arg, XP_016867249.1:p.Gln18Arg, XP_011514127.1:p.Gln18Arg, XP_047275864.1:p.Gln18Arg, XP_047275865.1:p.Gln18Arg, XP_047275866.1:p.Gln18Arg, XP_047275868.1:p.Gln18Arg, XP_047275869.1:p.Gln18Arg, XP_047275870.1:p.Gln18Arg, XP_047275871.1:p.Gln18Arg, XP_047275872.1:p.Gln18Arg, XP_047275873.1:p.Gln18Arg

Select item 146946138619.

rs1469461386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102248643 (GRCh38)
7:101891923 (GRCh37)
Canonical SPDI:: NC_000007.14:102248642:G:A
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102248643G>A, NC_000007.13:g.101891923G>A, NG_029476.2:g.437740G>A, NM_181552.4:c.4119G>A, NM_181552.3:c.4119G>A, NM_001202543.2:c.4152G>A, NM_001202543.1:c.4152G>A, NW_003571037.1:g.172973G>A, XM_005250150.4:c.4116G>A, XM_005250150.3:c.4416G>A, XM_005250150.2:c.4416G>A, XM_005250150.1:c.4416G>A, XM_017011760.3:c.4080G>A, XM_017011760.2:c.4080G>A, XM_017011760.1:c.4080G>A, XM_006715854.3:c.4053G>A, XM_006715854.2:c.4353G>A, XM_006715854.1:c.4353G>A, XM_011515825.3:c.3846G>A, XM_011515825.2:c.3846G>A, XM_011515825.1:c.3846G>A, XM_024446668.2:c.3807G>A, XM_024446668.1:c.4107G>A, XM_047419908.1:c.4149G>A, XM_047419909.1:c.4146G>A, XM_047419910.1:c.4143G>A, XM_047419906.1:c.4113G>A, XM_047419907.1:c.4110G>A, XM_047419912.1:c.4086G>A, XM_047419913.1:c.4083G>A, XM_047419914.1:c.3843G>A, XM_047419915.1:c.3840G>A, XM_047419911.1:c.3804G>A, XM_047419916.1:c.3780G>A, XM_047419917.1:c.3777G>A

Select item 146834115620.

rs1468341156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102248804 (GRCh38)
7:101892084 (GRCh37)
Canonical SPDI:: NC_000007.14:102248803:C:T
Gene:: CUX1 (Varview), LOC124901711 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.102248804C>T, NC_000007.13:g.101892084C>T, NG_029476.2:g.437901C>T, NM_181552.4:c.4280C>T, NM_181552.3:c.4280C>T, NM_001202543.2:c.4313C>T, NM_001202543.1:c.4313C>T, NW_003571037.1:g.173134C>T, XM_005250150.4:c.4277C>T, XM_005250150.3:c.4577C>T, XM_005250150.2:c.4577C>T, XM_005250150.1:c.4577C>T, XM_017011760.3:c.4241C>T, XM_017011760.2:c.4241C>T, XM_017011760.1:c.4241C>T, XM_006715854.3:c.4214C>T, XM_006715854.2:c.4514C>T, XM_006715854.1:c.4514C>T, XM_011515825.3:c.4007C>T, XM_011515825.2:c.4007C>T, XM_011515825.1:c.4007C>T, XM_024446668.2:c.3968C>T, XM_024446668.1:c.4268C>T, XM_047419908.1:c.4310C>T, XM_047419909.1:c.4307C>T, XM_047419910.1:c.4304C>T, XM_047419906.1:c.4274C>T, XM_047419907.1:c.4271C>T, XM_047419912.1:c.4247C>T, XM_047419913.1:c.4244C>T, XM_047419914.1:c.4004C>T, XM_047419915.1:c.4001C>T, XM_047419911.1:c.3965C>T, XM_047419916.1:c.3941C>T, XM_047419917.1:c.3938C>T, NP_853530.2:p.Ala1427Val, NP_001189472.1:p.Ala1438Val, XP_005250207.2:p.Ala1426Val, XP_016867249.1:p.Ala1414Val, XP_006715917.2:p.Ala1405Val, XP_011514127.1:p.Ala1336Val, XP_024302436.2:p.Ala1323Val, XP_047275864.1:p.Ala1437Val, XP_047275865.1:p.Ala1436Val, XP_047275866.1:p.Ala1435Val, XP_047275862.1:p.Ala1425Val, XP_047275863.1:p.Ala1424Val, XP_047275868.1:p.Ala1416Val, XP_047275869.1:p.Ala1415Val, XP_047275870.1:p.Ala1335Val, XP_047275871.1:p.Ala1334Val, XP_047275867.1:p.Ala1322Val, XP_047275872.1:p.Ala1314Val, XP_047275873.1:p.Ala1313Val

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