SNP Links for Protein (Select 21361682) - SNP

Select item 14891542871.

rs1489154287 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:27785171 (GRCh38)
7:27824790 (GRCh37)
Canonical SPDI:: NC_000007.14:27785170:T:
Gene:: TAX1BP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.27785171del, NC_000007.13:g.27824790del, NG_029523.1:g.50799del, NM_006024.7:c.621del, NM_006024.6:c.621del, NM_001079864.3:c.621del, NM_001079864.2:c.621del, NM_001362794.2:c.621del, NM_001362794.1:c.621del, NM_001206902.2:c.150del, NM_001206902.1:c.150del, NM_001362795.2:c.621del, NM_001362795.1:c.621del, NM_001206901.1:c.621del, NP_006015.4:p.Glu208fs, NP_001073333.1:p.Glu208fs, NP_001349723.1:p.Glu208fs, NP_001193831.1:p.Glu51fs, NP_001349724.1:p.Glu208fs, NP_001193830.1:p.Glu208fs

Select item 14885993782.

rs1488599378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:27748559 (GRCh38)
7:27788178 (GRCh37)
Canonical SPDI:: NC_000007.14:27748558:C:A
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.27748559C>A, NC_000007.13:g.27788178C>A, NG_029523.1:g.14187C>A, NM_006024.7:c.35C>A, NM_006024.6:c.35C>A, NM_001079864.3:c.35C>A, NM_001079864.2:c.35C>A, NM_001362794.2:c.35C>A, NM_001362794.1:c.35C>A, NM_001206902.2:c.-249C>A, NM_001206902.1:c.-249C>A, NM_001362795.2:c.35C>A, NM_001362795.1:c.35C>A, NM_001206901.1:c.35C>A, NP_006015.4:p.Ser12Tyr, NP_001073333.1:p.Ser12Tyr, NP_001349723.1:p.Ser12Tyr, NP_001349724.1:p.Ser12Tyr, NP_001193830.1:p.Ser12Tyr

Select item 14883348943.

rs1488334894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:27796179 (GRCh38)
7:27835798 (GRCh37)
Canonical SPDI:: NC_000007.14:27796178:A:T
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.27796179A>T, NC_000007.13:g.27835798A>T, NG_029523.1:g.61807A>T, NM_006024.7:c.1598A>T, NM_006024.6:c.1598A>T, NM_001079864.3:c.1598A>T, NM_001079864.2:c.1598A>T, NM_001362794.2:c.1598A>T, NM_001362794.1:c.1598A>T, NM_001206902.2:c.1127A>T, NM_001206902.1:c.1127A>T, NM_001362795.2:c.1598A>T, NM_001362795.1:c.1598A>T, NM_001206901.1:c.1598A>T, NP_006015.4:p.Asp533Val, NP_001073333.1:p.Asp533Val, NP_001349723.1:p.Asp533Val, NP_001193831.1:p.Asp376Val, NP_001349724.1:p.Asp533Val, NP_001193830.1:p.Asp533Val

Select item 14864059404.

rs1486405940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:27792165 (GRCh38)
7:27831784 (GRCh37)
Canonical SPDI:: NC_000007.14:27792164:A:C
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.27792165A>C, NC_000007.13:g.27831784A>C, NG_029523.1:g.57793A>C, NM_006024.7:c.1198A>C, NM_006024.6:c.1198A>C, NM_001079864.3:c.1198A>C, NM_001079864.2:c.1198A>C, NM_001362794.2:c.1198A>C, NM_001362794.1:c.1198A>C, NM_001206902.2:c.727A>C, NM_001206902.1:c.727A>C, NM_001362795.2:c.1198A>C, NM_001362795.1:c.1198A>C, NM_001206901.1:c.1198A>C, NP_006015.4:p.Lys400Gln, NP_001073333.1:p.Lys400Gln, NP_001349723.1:p.Lys400Gln, NP_001193831.1:p.Lys243Gln, NP_001349724.1:p.Lys400Gln, NP_001193830.1:p.Lys400Gln

Select item 14835877495.

rs1483587749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:27816430 (GRCh38)
7:27856049 (GRCh37)
Canonical SPDI:: NC_000007.14:27816429:T:C
Gene:: TAX1BP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.27816430T>C, NC_000007.13:g.27856049T>C, NG_029523.1:g.82058T>C, NM_006024.7:c.1846T>C, NM_006024.6:c.1846T>C, NM_001362794.2:c.1846T>C, NM_001362794.1:c.1846T>C, NP_006015.4:p.Cys616Arg, NP_001349723.1:p.Cys616Arg

Select item 14831398736.

rs1483139873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:27828751 (GRCh38)
7:27868370 (GRCh37)
Canonical SPDI:: NC_000007.14:27828750:C:A
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27828751C>A, NC_000007.13:g.27868370C>A, NG_011499.1:g.357068G>T, NG_029523.1:g.94379C>A, NM_006024.7:c.2292C>A, NM_006024.6:c.2292C>A, NM_001079864.3:c.2166C>A, NM_001079864.2:c.2166C>A, NM_001362794.2:c.2262C>A, NM_001362794.1:c.2262C>A, NM_001206902.2:c.1695C>A, NM_001206902.1:c.1695C>A, NM_001362795.2:c.1971C>A, NM_001362795.1:c.1971C>A, NM_001206901.1:c.2166C>A, NP_006015.4:p.Phe764Leu, NP_001073333.1:p.Phe722Leu, NP_001349723.1:p.Phe754Leu, NP_001193831.1:p.Phe565Leu, NP_001349724.1:p.Phe657Leu, NP_001193830.1:p.Phe722Leu

Select item 14820473677.

rs1482047367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:27816445 (GRCh38)
7:27856064 (GRCh37)
Canonical SPDI:: NC_000007.14:27816444:G:A,NC_000007.14:27816444:G:C
Gene:: TAX1BP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.27816445G>A, NC_000007.14:g.27816445G>C, NC_000007.13:g.27856064G>A, NC_000007.13:g.27856064G>C, NG_029523.1:g.82073G>A, NG_029523.1:g.82073G>C, NM_006024.7:c.1861G>A, NM_006024.7:c.1861G>C, NM_006024.6:c.1861G>A, NM_006024.6:c.1861G>C, NM_001362794.2:c.1861G>A, NM_001362794.2:c.1861G>C, NM_001362794.1:c.1861G>A, NM_001362794.1:c.1861G>C, NP_006015.4:p.Gly621Ser, NP_006015.4:p.Gly621Arg, NP_001349723.1:p.Gly621Ser, NP_001349723.1:p.Gly621Arg

Select item 14770650968.

rs1477065096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:27748555 (GRCh38)
7:27788174 (GRCh37)
Canonical SPDI:: NC_000007.14:27748554:A:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27748555A>G, NC_000007.13:g.27788174A>G, NG_029523.1:g.14183A>G, NM_006024.7:c.31A>G, NM_006024.6:c.31A>G, NM_001079864.3:c.31A>G, NM_001079864.2:c.31A>G, NM_001362794.2:c.31A>G, NM_001362794.1:c.31A>G, NM_001206902.2:c.-253A>G, NM_001206902.1:c.-253A>G, NM_001362795.2:c.31A>G, NM_001362795.1:c.31A>G, NM_001206901.1:c.31A>G, NP_006015.4:p.Thr11Ala, NP_001073333.1:p.Thr11Ala, NP_001349723.1:p.Thr11Ala, NP_001349724.1:p.Thr11Ala, NP_001193830.1:p.Thr11Ala

Select item 14759409879.

rs1475940987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:27785204 (GRCh38)
7:27824823 (GRCh37)
Canonical SPDI:: NC_000007.14:27785203:A:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27785204A>G, NC_000007.13:g.27824823A>G, NG_029523.1:g.50832A>G, NM_006024.7:c.654A>G, NM_006024.6:c.654A>G, NM_001079864.3:c.654A>G, NM_001079864.2:c.654A>G, NM_001362794.2:c.654A>G, NM_001362794.1:c.654A>G, NM_001206902.2:c.183A>G, NM_001206902.1:c.183A>G, NM_001362795.2:c.654A>G, NM_001362795.1:c.654A>G, NM_001206901.1:c.654A>G

Select item 147491370610.

rs1474913706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:27793198 (GRCh38)
7:27832817 (GRCh37)
Canonical SPDI:: NC_000007.14:27793197:C:A,NC_000007.14:27793197:C:G,NC_000007.14:27793197:C:T
Gene:: TAX1BP1 (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)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27793198C>A, NC_000007.14:g.27793198C>G, NC_000007.14:g.27793198C>T, NC_000007.13:g.27832817C>A, NC_000007.13:g.27832817C>G, NC_000007.13:g.27832817C>T, NG_029523.1:g.58826C>A, NG_029523.1:g.58826C>G, NG_029523.1:g.58826C>T, NM_006024.7:c.1396C>A, NM_006024.7:c.1396C>G, NM_006024.7:c.1396C>T, NM_006024.6:c.1396C>A, NM_006024.6:c.1396C>G, NM_006024.6:c.1396C>T, NM_001079864.3:c.1396C>A, NM_001079864.3:c.1396C>G, NM_001079864.3:c.1396C>T, NM_001079864.2:c.1396C>A, NM_001079864.2:c.1396C>G, NM_001079864.2:c.1396C>T, NM_001362794.2:c.1396C>A, NM_001362794.2:c.1396C>G, NM_001362794.2:c.1396C>T, NM_001362794.1:c.1396C>A, NM_001362794.1:c.1396C>G, NM_001362794.1:c.1396C>T, NM_001206902.2:c.925C>A, NM_001206902.2:c.925C>G, NM_001206902.2:c.925C>T, NM_001206902.1:c.925C>A, NM_001206902.1:c.925C>G, NM_001206902.1:c.925C>T, NM_001362795.2:c.1396C>A, NM_001362795.2:c.1396C>G, NM_001362795.2:c.1396C>T, NM_001362795.1:c.1396C>A, NM_001362795.1:c.1396C>G, NM_001362795.1:c.1396C>T, NM_001206901.1:c.1396C>A, NM_001206901.1:c.1396C>G, NM_001206901.1:c.1396C>T, NP_006015.4:p.Leu466Ile, NP_006015.4:p.Leu466Val, NP_006015.4:p.Leu466Phe, NP_001073333.1:p.Leu466Ile, NP_001073333.1:p.Leu466Val, NP_001073333.1:p.Leu466Phe, NP_001349723.1:p.Leu466Ile, NP_001349723.1:p.Leu466Val, NP_001349723.1:p.Leu466Phe, NP_001193831.1:p.Leu309Ile, NP_001193831.1:p.Leu309Val, NP_001193831.1:p.Leu309Phe, NP_001349724.1:p.Leu466Ile, NP_001349724.1:p.Leu466Val, NP_001349724.1:p.Leu466Phe, NP_001193830.1:p.Leu466Ile, NP_001193830.1:p.Leu466Val, NP_001193830.1:p.Leu466Phe

Select item 147365515611.

rs1473655156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:27816991 (GRCh38)
7:27856610 (GRCh37)
Canonical SPDI:: NC_000007.14:27816990:C:G,NC_000007.14:27816990:C:T
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.27816991C>G, NC_000007.14:g.27816991C>T, NC_000007.13:g.27856610C>G, NC_000007.13:g.27856610C>T, NG_029523.1:g.82619C>G, NG_029523.1:g.82619C>T, NM_006024.7:c.2038C>G, NM_006024.7:c.2038C>T, NM_006024.6:c.2038C>G, NM_006024.6:c.2038C>T, NM_001079864.3:c.1912C>G, NM_001079864.3:c.1912C>T, NM_001079864.2:c.1912C>G, NM_001079864.2:c.1912C>T, NM_001362794.2:c.2008C>G, NM_001362794.2:c.2008C>T, NM_001362794.1:c.2008C>G, NM_001362794.1:c.2008C>T, NM_001206902.2:c.1441C>G, NM_001206902.2:c.1441C>T, NM_001206902.1:c.1441C>G, NM_001206902.1:c.1441C>T, NM_001206901.1:c.1912C>G, NM_001206901.1:c.1912C>T, NP_006015.4:p.Arg680Gly, NP_006015.4:p.Arg680Ter, NP_001073333.1:p.Arg638Gly, NP_001073333.1:p.Arg638Ter, NP_001349723.1:p.Arg670Gly, NP_001349723.1:p.Arg670Ter, NP_001193831.1:p.Arg481Gly, NP_001193831.1:p.Arg481Ter, NP_001193830.1:p.Arg638Gly, NP_001193830.1:p.Arg638Ter

Select item 147125385512.

rs1471253855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:27787581 (GRCh38)
7:27827200 (GRCh37)
Canonical SPDI:: NC_000007.14:27787580:T:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27787581T>G, NC_000007.13:g.27827200T>G, NG_029523.1:g.53209T>G, NM_006024.7:c.1016T>G, NM_006024.6:c.1016T>G, NM_001079864.3:c.1016T>G, NM_001079864.2:c.1016T>G, NM_001362794.2:c.1016T>G, NM_001362794.1:c.1016T>G, NM_001206902.2:c.545T>G, NM_001206902.1:c.545T>G, NM_001362795.2:c.1016T>G, NM_001362795.1:c.1016T>G, NM_001206901.1:c.1016T>G, NP_006015.4:p.Phe339Cys, NP_001073333.1:p.Phe339Cys, NP_001349723.1:p.Phe339Cys, NP_001193831.1:p.Phe182Cys, NP_001349724.1:p.Phe339Cys, NP_001193830.1:p.Phe339Cys

Select item 146930889113.

rs1469308891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:27816966 (GRCh38)
7:27856585 (GRCh37)
Canonical SPDI:: NC_000007.14:27816965:C:A,NC_000007.14:27816965:C:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.27816966C>A, NC_000007.14:g.27816966C>G, NC_000007.13:g.27856585C>A, NC_000007.13:g.27856585C>G, NG_029523.1:g.82594C>A, NG_029523.1:g.82594C>G, NM_006024.7:c.2013C>A, NM_006024.7:c.2013C>G, NM_006024.6:c.2013C>A, NM_006024.6:c.2013C>G, NM_001079864.3:c.1887C>A, NM_001079864.3:c.1887C>G, NM_001079864.2:c.1887C>A, NM_001079864.2:c.1887C>G, NM_001362794.2:c.1983C>A, NM_001362794.2:c.1983C>G, NM_001362794.1:c.1983C>A, NM_001362794.1:c.1983C>G, NM_001206902.2:c.1416C>A, NM_001206902.2:c.1416C>G, NM_001206902.1:c.1416C>A, NM_001206902.1:c.1416C>G, NM_001206901.1:c.1887C>A, NM_001206901.1:c.1887C>G, NP_006015.4:p.Asp671Glu, NP_006015.4:p.Asp671Glu, NP_001073333.1:p.Asp629Glu, NP_001073333.1:p.Asp629Glu, NP_001349723.1:p.Asp661Glu, NP_001349723.1:p.Asp661Glu, NP_001193831.1:p.Asp472Glu, NP_001193831.1:p.Asp472Glu, NP_001193830.1:p.Asp629Glu, NP_001193830.1:p.Asp629Glu

Select item 146599452614.

rs1465994526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:27816936 (GRCh38)
7:27856555 (GRCh37)
Canonical SPDI:: NC_000007.14:27816935:T:A,NC_000007.14:27816935:T:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.27816936T>A, NC_000007.14:g.27816936T>G, NC_000007.13:g.27856555T>A, NC_000007.13:g.27856555T>G, NG_029523.1:g.82564T>A, NG_029523.1:g.82564T>G, NM_006024.7:c.1983T>A, NM_006024.7:c.1983T>G, NM_006024.6:c.1983T>A, NM_006024.6:c.1983T>G, NM_001079864.3:c.1857T>A, NM_001079864.3:c.1857T>G, NM_001079864.2:c.1857T>A, NM_001079864.2:c.1857T>G, NM_001362794.2:c.1953T>A, NM_001362794.2:c.1953T>G, NM_001362794.1:c.1953T>A, NM_001362794.1:c.1953T>G, NM_001206902.2:c.1386T>A, NM_001206902.2:c.1386T>G, NM_001206902.1:c.1386T>A, NM_001206902.1:c.1386T>G, NM_001206901.1:c.1857T>A, NM_001206901.1:c.1857T>G

Select item 146438712615.

rs1464387126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:27828785 (GRCh38)
7:27868404 (GRCh37)
Canonical SPDI:: NC_000007.14:27828784:C:T
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27828785C>T, NC_000007.13:g.27868404C>T, NG_011499.1:g.357034G>A, NG_029523.1:g.94413C>T, NM_006024.7:c.2326C>T, NM_006024.6:c.2326C>T, NM_001079864.3:c.2200C>T, NM_001079864.2:c.2200C>T, NM_001362794.2:c.2296C>T, NM_001362794.1:c.2296C>T, NM_001206902.2:c.1729C>T, NM_001206902.1:c.1729C>T, NM_001362795.2:c.2005C>T, NM_001362795.1:c.2005C>T, NM_001206901.1:c.2200C>T, NP_006015.4:p.His776Tyr, NP_001073333.1:p.His734Tyr, NP_001349723.1:p.His766Tyr, NP_001193831.1:p.His577Tyr, NP_001349724.1:p.His669Tyr, NP_001193830.1:p.His734Tyr

Select item 146205750116.

rs1462057501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:27816421 (GRCh38)
7:27856040 (GRCh37)
Canonical SPDI:: NC_000007.14:27816420:T:A
Gene:: TAX1BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.27816421T>A, NC_000007.13:g.27856040T>A, NG_029523.1:g.82049T>A, NM_006024.7:c.1837T>A, NM_006024.6:c.1837T>A, NM_001362794.2:c.1837T>A, NM_001362794.1:c.1837T>A, NP_006015.4:p.Phe613Ile, NP_001349723.1:p.Phe613Ile

Select item 146053460217.

rs1460534602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:27785406 (GRCh38)
7:27825025 (GRCh37)
Canonical SPDI:: NC_000007.14:27785405:G:A
Gene:: TAX1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.27785406G>A, NC_000007.13:g.27825025G>A, NG_029523.1:g.51034G>A, NM_006024.7:c.769G>A, NM_006024.6:c.769G>A, NM_001079864.3:c.769G>A, NM_001079864.2:c.769G>A, NM_001362794.2:c.769G>A, NM_001362794.1:c.769G>A, NM_001206902.2:c.298G>A, NM_001206902.1:c.298G>A, NM_001362795.2:c.769G>A, NM_001362795.1:c.769G>A, NM_001206901.1:c.769G>A, NP_006015.4:p.Asp257Asn, NP_001073333.1:p.Asp257Asn, NP_001349723.1:p.Asp257Asn, NP_001193831.1:p.Asp100Asn, NP_001349724.1:p.Asp257Asn, NP_001193830.1:p.Asp257Asn

Select item 145936209218.

rs1459362092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:27828806 (GRCh38)
7:27868425 (GRCh37)
Canonical SPDI:: NC_000007.14:27828805:C:G,NC_000007.14:27828805:C:T
Gene:: TAX1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.27828806C>G, NC_000007.14:g.27828806C>T, NC_000007.13:g.27868425C>G, NC_000007.13:g.27868425C>T, NG_011499.1:g.357013G>C, NG_011499.1:g.357013G>A, NG_029523.1:g.94434C>G, NG_029523.1:g.94434C>T, NM_006024.7:c.2347C>G, NM_006024.7:c.2347C>T, NM_006024.6:c.2347C>G, NM_006024.6:c.2347C>T, NM_001079864.3:c.2221C>G, NM_001079864.3:c.2221C>T, NM_001079864.2:c.2221C>G, NM_001079864.2:c.2221C>T, NM_001362794.2:c.2317C>G, NM_001362794.2:c.2317C>T, NM_001362794.1:c.2317C>G, NM_001362794.1:c.2317C>T, NM_001206902.2:c.1750C>G, NM_001206902.2:c.1750C>T, NM_001206902.1:c.1750C>G, NM_001206902.1:c.1750C>T, NM_001362795.2:c.2026C>G, NM_001362795.2:c.2026C>T, NM_001362795.1:c.2026C>G, NM_001362795.1:c.2026C>T, NM_001206901.1:c.2221C>G, NM_001206901.1:c.2221C>T, NP_006015.4:p.Gln783Glu, NP_006015.4:p.Gln783Ter, NP_001073333.1:p.Gln741Glu, NP_001073333.1:p.Gln741Ter, NP_001349723.1:p.Gln773Glu, NP_001349723.1:p.Gln773Ter, NP_001193831.1:p.Gln584Glu, NP_001193831.1:p.Gln584Ter, NP_001349724.1:p.Gln676Glu, NP_001349724.1:p.Gln676Ter, NP_001193830.1:p.Gln741Glu, NP_001193830.1:p.Gln741Ter

Select item 145677946519.

rs1456779465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:27766012 (GRCh38)
7:27805631 (GRCh37)
Canonical SPDI:: NC_000007.14:27766011:C:G
Gene:: TAX1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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.27766012C>G, NC_000007.13:g.27805631C>G, NG_029523.1:g.31640C>G, NM_006024.7:c.444C>G, NM_006024.6:c.444C>G, NM_001079864.3:c.444C>G, NM_001079864.2:c.444C>G, NM_001362794.2:c.444C>G, NM_001362794.1:c.444C>G, NM_001362795.2:c.444C>G, NM_001362795.1:c.444C>G, NM_001206901.1:c.444C>G

Select item 145504960120.

rs1455049601 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAAG>- [Show Flanks]
Chromosome:: 7:27816355 (GRCh38)
7:27855974 (GRCh37)
Canonical SPDI:: NC_000007.14:27816354:AAAAG:
Gene:: TAX1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.27816355_27816359del, NC_000007.13:g.27855974_27855978del, NG_029523.1:g.81983_81987del, NM_006024.7:c.1771_1775del, NM_006024.6:c.1771_1775del, NM_001079864.3:c.1771_1775del, NM_001079864.2:c.1771_1775del, NM_001362794.2:c.1771_1775del, NM_001362794.1:c.1771_1775del, NM_001206902.2:c.1300_1304del, NM_001206902.1:c.1300_1304del, NM_001206901.1:c.1771_1775del, NP_006015.4:p.Lys591fs, NP_001073333.1:p.Lys591fs, NP_001349723.1:p.Lys591fs, NP_001193831.1:p.Lys434fs, NP_001193830.1:p.Lys591fs

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Result Filters

Clinical Significance

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Items: 1 to 20 of 684

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