SNP Links for Protein (Select 262527244) - SNP

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Links from Protein

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Select item 14905483901.

rs1490548390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33304445 (GRCh38)
6:33272222 (GRCh37)
Canonical SPDI:: NC_000006.12:33304444:G:A
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33304445G>A, NC_000006.11:g.33272222G>A, NG_009876.1:g.14768C>T, NM_003190.5:c.1062C>T, NM_003190.4:c.1062C>T, NM_172209.3:c.801C>T, NM_172209.2:c.801C>T, NM_172208.3:c.1062C>T, NM_172208.2:c.1062C>T, NM_001410875.1:c.1062C>T, NT_113891.3:g.4715939G>A, NT_113891.2:g.4716045G>A, NT_167247.2:g.4740381G>A, NT_167247.1:g.4745966G>A, NT_167248.2:g.4498876G>A, NT_167248.1:g.4504472G>A, NT_167245.2:g.4547972G>A, NT_167245.1:g.4553557G>A, XM_011514828.4:c.1062C>T, XM_011514828.3:c.1062C>T, XM_011514828.2:c.1062C>T, XM_011514828.1:c.1062C>T, XM_017011227.2:c.1062C>T, XM_047419271.1:c.801C>T, XM_047419272.1:c.801C>T

Select item 14897688292.

rs1489768829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33305067 (GRCh38)
6:33272844 (GRCh37)
Canonical SPDI:: NC_000006.12:33305066:A:G
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33305067A>G, NC_000006.11:g.33272844A>G, NG_009876.1:g.14146T>C, NM_003190.5:c.790T>C, NM_003190.4:c.790T>C, NM_172209.3:c.529T>C, NM_172209.2:c.529T>C, NM_172208.3:c.790T>C, NM_172208.2:c.790T>C, NM_001410875.1:c.790T>C, NT_113891.3:g.4716561A>G, NT_113891.2:g.4716667A>G, NT_167247.2:g.4741003A>G, NT_167247.1:g.4746588A>G, NT_167248.2:g.4499498A>G, NT_167248.1:g.4505094A>G, NT_167245.2:g.4548594A>G, NT_167245.1:g.4554179A>G, XM_011514828.4:c.790T>C, XM_011514828.3:c.790T>C, XM_011514828.2:c.790T>C, XM_011514828.1:c.790T>C, XM_017011227.2:c.790T>C, XM_047419272.1:c.529T>C, XM_047419271.1:c.529T>C, NP_003181.3:p.Phe264Leu, NP_757346.2:p.Phe177Leu, NP_757345.2:p.Phe264Leu, XP_011513130.1:p.Phe264Leu, XP_016866716.1:p.Phe264Leu, XP_047275228.1:p.Phe177Leu, XP_047275227.1:p.Phe177Leu

Select item 14873756513.

rs1487375651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33313765 (GRCh38)
6:33281542 (GRCh37)
Canonical SPDI:: NC_000006.12:33313764:A:G
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33313765A>G, NC_000006.11:g.33281542A>G, NG_009876.1:g.5448T>C, NM_003190.5:c.137T>C, NM_003190.4:c.137T>C, NM_172209.3:c.137T>C, NM_172209.2:c.137T>C, NM_172208.3:c.137T>C, NM_172208.2:c.137T>C, NM_001410875.1:c.137T>C, NT_113891.3:g.4725248A>G, NT_113891.2:g.4725354A>G, NT_167247.2:g.4749699A>G, NT_167247.1:g.4755284A>G, NT_167248.2:g.4508192A>G, NT_167248.1:g.4513788A>G, NT_167245.2:g.4557280A>G, NT_167245.1:g.4562865A>G, XM_011514828.4:c.137T>C, XM_011514828.3:c.137T>C, XM_011514828.2:c.137T>C, XM_011514828.1:c.137T>C, XM_017011227.2:c.137T>C, XM_047419271.1:c.137T>C, XM_047419272.1:c.137T>C, NP_003181.3:p.Leu46Pro, NP_757346.2:p.Leu46Pro, NP_757345.2:p.Leu46Pro, XP_011513130.1:p.Leu46Pro, XP_016866716.1:p.Leu46Pro, XP_047275227.1:p.Leu46Pro, XP_047275228.1:p.Leu46Pro

Select item 14850312954.

rs1485031295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33305264 (GRCh38)
6:33273041 (GRCh37)
Canonical SPDI:: NC_000006.12:33305263:C:A,NC_000006.12:33305263:C:T
Gene:: TAPBP (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)
T=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.33305264C>A, NC_000006.12:g.33305264C>T, NC_000006.11:g.33273041C>A, NC_000006.11:g.33273041C>T, NG_009876.1:g.13949G>T, NG_009876.1:g.13949G>A, NM_003190.5:c.593G>T, NM_003190.5:c.593G>A, NM_003190.4:c.593G>T, NM_003190.4:c.593G>A, NM_172209.3:c.332G>T, NM_172209.3:c.332G>A, NM_172209.2:c.332G>T, NM_172209.2:c.332G>A, NM_172208.3:c.593G>T, NM_172208.3:c.593G>A, NM_172208.2:c.593G>T, NM_172208.2:c.593G>A, NM_001410875.1:c.593G>T, NM_001410875.1:c.593G>A, NT_113891.3:g.4716758C>A, NT_113891.3:g.4716758C>T, NT_113891.2:g.4716864C>A, NT_113891.2:g.4716864C>T, NT_167247.2:g.4741200C>A, NT_167247.2:g.4741200C>T, NT_167247.1:g.4746785C>A, NT_167247.1:g.4746785C>T, NT_167248.2:g.4499695C>A, NT_167248.2:g.4499695C>T, NT_167248.1:g.4505291C>A, NT_167248.1:g.4505291C>T, NT_167245.2:g.4548791C>A, NT_167245.2:g.4548791C>T, NT_167245.1:g.4554376C>A, NT_167245.1:g.4554376C>T, XM_011514828.4:c.593G>T, XM_011514828.4:c.593G>A, XM_011514828.3:c.593G>T, XM_011514828.3:c.593G>A, XM_011514828.2:c.593G>T, XM_011514828.2:c.593G>A, XM_011514828.1:c.593G>T, XM_011514828.1:c.593G>A, XM_017011227.2:c.593G>T, XM_017011227.2:c.593G>A, XM_047419271.1:c.332G>T, XM_047419271.1:c.332G>A, XM_047419272.1:c.332G>T, XM_047419272.1:c.332G>A, NP_003181.3:p.Gly198Val, NP_003181.3:p.Gly198Asp, NP_757346.2:p.Gly111Val, NP_757346.2:p.Gly111Asp, NP_757345.2:p.Gly198Val, NP_757345.2:p.Gly198Asp, XP_011513130.1:p.Gly198Val, XP_011513130.1:p.Gly198Asp, XP_016866716.1:p.Gly198Val, XP_016866716.1:p.Gly198Asp, XP_047275227.1:p.Gly111Val, XP_047275227.1:p.Gly111Asp, XP_047275228.1:p.Gly111Val, XP_047275228.1:p.Gly111Asp

Select item 14790987805.

rs1479098780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33313772 (GRCh38)
6:33281549 (GRCh37)
Canonical SPDI:: NC_000006.12:33313771:C:T
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33313772C>T, NC_000006.11:g.33281549C>T, NG_009876.1:g.5441G>A, NM_003190.5:c.130G>A, NM_003190.4:c.130G>A, NM_172209.3:c.130G>A, NM_172209.2:c.130G>A, NM_172208.3:c.130G>A, NM_172208.2:c.130G>A, NM_001410875.1:c.130G>A, NT_113891.3:g.4725255C>T, NT_113891.2:g.4725361C>T, NT_167247.2:g.4749706C>T, NT_167247.1:g.4755291C>T, NT_167248.2:g.4508199C>T, NT_167248.1:g.4513795C>T, NT_167245.2:g.4557287C>T, NT_167245.1:g.4562872C>T, XM_011514828.4:c.130G>A, XM_011514828.3:c.130G>A, XM_011514828.2:c.130G>A, XM_011514828.1:c.130G>A, XM_017011227.2:c.130G>A, XM_047419271.1:c.130G>A, XM_047419272.1:c.130G>A, NP_003181.3:p.Ala44Thr, NP_757346.2:p.Ala44Thr, NP_757345.2:p.Ala44Thr, XP_011513130.1:p.Ala44Thr, XP_016866716.1:p.Ala44Thr, XP_047275227.1:p.Ala44Thr, XP_047275228.1:p.Ala44Thr

Select item 14730698886.

rs1473069888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:33314037 (GRCh38)
6:33281814 (GRCh37)
Canonical SPDI:: NC_000006.12:33314036:T:A
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33314037T>A, NC_000006.11:g.33281814T>A, NG_009876.1:g.5176A>T, NM_003190.5:c.5A>T, NM_003190.4:c.5A>T, NM_172209.3:c.5A>T, NM_172209.2:c.5A>T, NM_172208.3:c.5A>T, NM_172208.2:c.5A>T, NM_001410875.1:c.5A>T, NT_113891.3:g.4725520T>A, NT_113891.2:g.4725626T>A, NT_167247.2:g.4749971T>A, NT_167247.1:g.4755556T>A, NT_167248.2:g.4508464T>A, NT_167248.1:g.4514060T>A, NT_167245.2:g.4557552T>A, NT_167245.1:g.4563137T>A, XM_011514828.4:c.5A>T, XM_011514828.3:c.5A>T, XM_011514828.2:c.5A>T, XM_011514828.1:c.5A>T, XM_017011227.2:c.5A>T, XM_047419272.1:c.5A>T, XM_047419271.1:c.5A>T, NP_003181.3:p.Lys2Met, NP_757346.2:p.Lys2Met, NP_757345.2:p.Lys2Met, XP_011513130.1:p.Lys2Met, XP_016866716.1:p.Lys2Met, XP_047275228.1:p.Lys2Met, XP_047275227.1:p.Lys2Met

Select item 14709222267.

rs1470922226 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:33303964 (GRCh38)
6:33271741 (GRCh37)
Canonical SPDI:: NC_000006.12:33303963:AT:
Gene:: TAPBP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33303964_33303965del, NC_000006.11:g.33271741_33271742del, NG_009876.1:g.15248_15249del, NM_003190.5:c.1325_1326del, NM_003190.4:c.1325_1326del, NM_172209.3:c.1064_1065del, NM_172209.2:c.1064_1065del, NM_172208.3:c.1325_1326del, NM_172208.2:c.1325_1326del, NT_113891.3:g.4715458_4715459del, NT_113891.2:g.4715564_4715565del, NT_167247.2:g.4739900_4739901del, NT_167247.1:g.4745485_4745486del, NT_167248.2:g.4498395_4498396del, NT_167248.1:g.4503991_4503992del, NT_167245.2:g.4547491_4547492del, NT_167245.1:g.4553076_4553077del, NP_003181.3:p.Asp442fs, NP_757346.2:p.Asp355fs, NP_757345.2:p.Asp442fs

Select item 14681823078.

rs1468182307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33304595 (GRCh38)
6:33272372 (GRCh37)
Canonical SPDI:: NC_000006.12:33304594:G:A
Gene:: TAPBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33304595G>A, NC_000006.11:g.33272372G>A, NG_009876.1:g.14618C>T, NM_003190.5:c.912C>T, NM_003190.4:c.912C>T, NM_172209.3:c.651C>T, NM_172209.2:c.651C>T, NM_172208.3:c.912C>T, NM_172208.2:c.912C>T, NM_001410875.1:c.912C>T, NT_113891.3:g.4716089G>A, NT_113891.2:g.4716195G>A, NT_167247.2:g.4740531G>A, NT_167247.1:g.4746116G>A, NT_167248.2:g.4499026G>A, NT_167248.1:g.4504622G>A, NT_167245.2:g.4548122G>A, NT_167245.1:g.4553707G>A, XM_011514828.4:c.912C>T, XM_011514828.3:c.912C>T, XM_011514828.2:c.912C>T, XM_011514828.1:c.912C>T, XM_017011227.2:c.912C>T, XM_047419271.1:c.651C>T, XM_047419272.1:c.651C>T

Select item 14674774999.

rs1467477499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33313731 (GRCh38)
6:33281508 (GRCh37)
Canonical SPDI:: NC_000006.12:33313730:C:T
Gene:: TAPBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33313731C>T, NC_000006.11:g.33281508C>T, NG_009876.1:g.5482G>A, NM_003190.5:c.171G>A, NM_003190.4:c.171G>A, NM_172209.3:c.171G>A, NM_172209.2:c.171G>A, NM_172208.3:c.171G>A, NM_172208.2:c.171G>A, NM_001410875.1:c.171G>A, NT_113891.3:g.4725214C>T, NT_113891.2:g.4725320C>T, NT_167247.2:g.4749665C>T, NT_167247.1:g.4755250C>T, NT_167248.2:g.4508158C>T, NT_167248.1:g.4513754C>T, NT_167245.2:g.4557246C>T, NT_167245.1:g.4562831C>T, XM_011514828.4:c.171G>A, XM_011514828.3:c.171G>A, XM_011514828.2:c.171G>A, XM_011514828.1:c.171G>A, XM_047419271.1:c.171G>A, XM_017011227.2:c.171G>A, XM_047419272.1:c.171G>A

Select item 146528609010.

rs1465286090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33313734 (GRCh38)
6:33281511 (GRCh37)
Canonical SPDI:: NC_000006.12:33313733:G:A
Gene:: TAPBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.33313734G>A, NC_000006.11:g.33281511G>A, NG_009876.1:g.5479C>T, NM_003190.5:c.168C>T, NM_003190.4:c.168C>T, NM_172209.3:c.168C>T, NM_172209.2:c.168C>T, NM_172208.3:c.168C>T, NM_172208.2:c.168C>T, NM_001410875.1:c.168C>T, NT_113891.3:g.4725217G>A, NT_113891.2:g.4725323G>A, NT_167247.2:g.4749668G>A, NT_167247.1:g.4755253G>A, NT_167248.2:g.4508161G>A, NT_167248.1:g.4513757G>A, NT_167245.2:g.4557249G>A, NT_167245.1:g.4562834G>A, XM_011514828.4:c.168C>T, XM_011514828.3:c.168C>T, XM_011514828.2:c.168C>T, XM_011514828.1:c.168C>T, XM_017011227.2:c.168C>T, XM_047419271.1:c.168C>T, XM_047419272.1:c.168C>T

Select item 146297435311.

rs1462974353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33304635 (GRCh38)
6:33272412 (GRCh37)
Canonical SPDI:: NC_000006.12:33304634:G:A,NC_000006.12:33304634:G:T
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33304635G>A, NC_000006.12:g.33304635G>T, NC_000006.11:g.33272412G>A, NC_000006.11:g.33272412G>T, NG_009876.1:g.14578C>T, NG_009876.1:g.14578C>A, NM_003190.5:c.872C>T, NM_003190.5:c.872C>A, NM_003190.4:c.872C>T, NM_003190.4:c.872C>A, NM_172209.3:c.611C>T, NM_172209.3:c.611C>A, NM_172209.2:c.611C>T, NM_172209.2:c.611C>A, NM_172208.3:c.872C>T, NM_172208.3:c.872C>A, NM_172208.2:c.872C>T, NM_172208.2:c.872C>A, NM_001410875.1:c.872C>T, NM_001410875.1:c.872C>A, NT_113891.3:g.4716129G>A, NT_113891.3:g.4716129G>T, NT_113891.2:g.4716235G>A, NT_113891.2:g.4716235G>T, NT_167247.2:g.4740571G>A, NT_167247.2:g.4740571G>T, NT_167247.1:g.4746156G>A, NT_167247.1:g.4746156G>T, NT_167248.2:g.4499066G>A, NT_167248.2:g.4499066G>T, NT_167248.1:g.4504662G>A, NT_167248.1:g.4504662G>T, NT_167245.2:g.4548162G>A, NT_167245.2:g.4548162G>T, NT_167245.1:g.4553747G>A, NT_167245.1:g.4553747G>T, XM_011514828.4:c.872C>T, XM_011514828.4:c.872C>A, XM_011514828.3:c.872C>T, XM_011514828.3:c.872C>A, XM_011514828.2:c.872C>T, XM_011514828.2:c.872C>A, XM_011514828.1:c.872C>T, XM_011514828.1:c.872C>A, XM_047419271.1:c.611C>T, XM_047419271.1:c.611C>A, XM_017011227.2:c.872C>T, XM_017011227.2:c.872C>A, XM_047419272.1:c.611C>T, XM_047419272.1:c.611C>A, NP_003181.3:p.Pro291Leu, NP_003181.3:p.Pro291His, NP_757346.2:p.Pro204Leu, NP_757346.2:p.Pro204His, NP_757345.2:p.Pro291Leu, NP_757345.2:p.Pro291His, XP_011513130.1:p.Pro291Leu, XP_011513130.1:p.Pro291His, XP_047275227.1:p.Pro204Leu, XP_047275227.1:p.Pro204His, XP_016866716.1:p.Pro291Leu, XP_016866716.1:p.Pro291His, XP_047275228.1:p.Pro204Leu, XP_047275228.1:p.Pro204His

Select item 146103664212.

rs1461036642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33305196 (GRCh38)
6:33272973 (GRCh37)
Canonical SPDI:: NC_000006.12:33305195:T:C
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33305196T>C, NC_000006.11:g.33272973T>C, NG_009876.1:g.14017A>G, NM_003190.5:c.661A>G, NM_003190.4:c.661A>G, NM_172209.3:c.400A>G, NM_172209.2:c.400A>G, NM_172208.3:c.661A>G, NM_172208.2:c.661A>G, NM_001410875.1:c.661A>G, NT_113891.3:g.4716690T>C, NT_113891.2:g.4716796T>C, NT_167247.2:g.4741132T>C, NT_167247.1:g.4746717T>C, NT_167248.2:g.4499627T>C, NT_167248.1:g.4505223T>C, NT_167245.2:g.4548723T>C, NT_167245.1:g.4554308T>C, XM_011514828.4:c.661A>G, XM_011514828.3:c.661A>G, XM_011514828.2:c.661A>G, XM_011514828.1:c.661A>G, XM_017011227.2:c.661A>G, XM_047419271.1:c.400A>G, XM_047419272.1:c.400A>G, NP_003181.3:p.Thr221Ala, NP_757346.2:p.Thr134Ala, NP_757345.2:p.Thr221Ala, XP_011513130.1:p.Thr221Ala, XP_016866716.1:p.Thr221Ala, XP_047275227.1:p.Thr134Ala, XP_047275228.1:p.Thr134Ala

Select item 145865384613.

rs1458653846 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>-,ATCATC [Show Flanks]
Chromosome:: 6:33305131 (GRCh38)
6:33272908 (GRCh37)
Canonical SPDI:: NC_000006.12:33305122:TCATCATCATC:TCATCATC,NC_000006.12:33305122:TCATCATCATC:TCATCATCATCATC
Gene:: TAPBP (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,inframe_deletion
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TCATCATC=0.000066/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33305125ATC[2], NC_000006.12:g.33305125ATC[4], NC_000006.11:g.33272902ATC[2], NC_000006.11:g.33272902ATC[4], NG_009876.1:g.14082TGA[2], NG_009876.1:g.14082TGA[4], NM_003190.5:c.726TGA[2], NM_003190.5:c.726TGA[4], NM_003190.4:c.726TGA[2], NM_003190.4:c.726TGA[4], NM_172209.3:c.465TGA[2], NM_172209.3:c.465TGA[4], NM_172209.2:c.465TGA[2], NM_172209.2:c.465TGA[4], NM_172208.3:c.726TGA[2], NM_172208.3:c.726TGA[4], NM_172208.2:c.726TGA[2], NM_172208.2:c.726TGA[4], NM_001410875.1:c.726TGA[2], NM_001410875.1:c.726TGA[4], NT_113891.3:g.4716619ATC[2], NT_113891.3:g.4716619ATC[4], NT_113891.2:g.4716725ATC[2], NT_113891.2:g.4716725ATC[4], NT_167247.2:g.4741061ATC[2], NT_167247.2:g.4741061ATC[4], NT_167247.1:g.4746646ATC[2], NT_167247.1:g.4746646ATC[4], NT_167248.2:g.4499556ATC[2], NT_167248.2:g.4499556ATC[4], NT_167248.1:g.4505152ATC[2], NT_167248.1:g.4505152ATC[4], NT_167245.2:g.4548652ATC[2], NT_167245.2:g.4548652ATC[4], NT_167245.1:g.4554237ATC[2], NT_167245.1:g.4554237ATC[4], XM_011514828.4:c.726TGA[2], XM_011514828.4:c.726TGA[4], XM_011514828.3:c.726TGA[2], XM_011514828.3:c.726TGA[4], XM_011514828.2:c.726TGA[2], XM_011514828.2:c.726TGA[4], XM_011514828.1:c.726TGA[2], XM_011514828.1:c.726TGA[4], XM_017011227.2:c.726TGA[2], XM_017011227.2:c.726TGA[4], XM_047419272.1:c.465TGA[2], XM_047419272.1:c.465TGA[4], XM_047419271.1:c.465TGA[2], XM_047419271.1:c.465TGA[4], NP_003181.3:p.Asp244del, NP_003181.3:p.Asp244dup, NP_757346.2:p.Asp157del, NP_757346.2:p.Asp157dup, NP_757345.2:p.Asp244del, NP_757345.2:p.Asp244dup, XP_011513130.1:p.Asp244del, XP_011513130.1:p.Asp244dup, XP_016866716.1:p.Asp244del, XP_016866716.1:p.Asp244dup, XP_047275228.1:p.Asp157del, XP_047275228.1:p.Asp157dup, XP_047275227.1:p.Asp157del, XP_047275227.1:p.Asp157dup

Select item 145799755514.

rs1457997555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33305154 (GRCh38)
6:33272931 (GRCh37)
Canonical SPDI:: NC_000006.12:33305153:C:T
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33305154C>T, NC_000006.11:g.33272931C>T, NG_009876.1:g.14059G>A, NM_003190.5:c.703G>A, NM_003190.4:c.703G>A, NM_172209.3:c.442G>A, NM_172209.2:c.442G>A, NM_172208.3:c.703G>A, NM_172208.2:c.703G>A, NM_001410875.1:c.703G>A, NT_113891.3:g.4716648C>T, NT_113891.2:g.4716754C>T, NT_167247.2:g.4741090C>T, NT_167247.1:g.4746675C>T, NT_167248.2:g.4499585C>T, NT_167248.1:g.4505181C>T, NT_167245.2:g.4548681C>T, NT_167245.1:g.4554266C>T, XM_011514828.4:c.703G>A, XM_011514828.3:c.703G>A, XM_011514828.2:c.703G>A, XM_011514828.1:c.703G>A, XM_017011227.2:c.703G>A, XM_047419272.1:c.442G>A, XM_047419271.1:c.442G>A, NP_003181.3:p.Ala235Thr, NP_757346.2:p.Ala148Thr, NP_757345.2:p.Ala235Thr, XP_011513130.1:p.Ala235Thr, XP_016866716.1:p.Ala235Thr, XP_047275228.1:p.Ala148Thr, XP_047275227.1:p.Ala148Thr

Select item 145635850815.

rs1456358508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33304997 (GRCh38)
6:33272774 (GRCh37)
Canonical SPDI:: NC_000006.12:33304996:G:T
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33304997G>T, NC_000006.11:g.33272774G>T, NG_009876.1:g.14216C>A, NM_003190.5:c.860C>A, NM_003190.4:c.860C>A, NM_172209.3:c.599C>A, NM_172209.2:c.599C>A, NM_172208.3:c.860C>A, NM_172208.2:c.860C>A, NM_001410875.1:c.860C>A, NT_113891.3:g.4716491G>T, NT_113891.2:g.4716597G>T, NT_167247.2:g.4740933G>T, NT_167247.1:g.4746518G>T, NT_167248.2:g.4499428G>T, NT_167248.1:g.4505024G>T, NT_167245.2:g.4548524G>T, NT_167245.1:g.4554109G>T, XM_011514828.4:c.860C>A, XM_011514828.3:c.860C>A, XM_011514828.2:c.860C>A, XM_011514828.1:c.860C>A, XM_047419271.1:c.599C>A, XM_017011227.2:c.860C>A, XM_047419272.1:c.599C>A, NP_003181.3:p.Ala287Asp, NP_757346.2:p.Ala200Asp, NP_757345.2:p.Ala287Asp, XP_011513130.1:p.Ala287Asp, XP_047275227.1:p.Ala200Asp, XP_016866716.1:p.Ala287Asp, XP_047275228.1:p.Ala200Asp

Select item 145461577116.

rs1454615771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33303977 (GRCh38)
6:33271754 (GRCh37)
Canonical SPDI:: NC_000006.12:33303976:G:A
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33303977G>A, NC_000006.11:g.33271754G>A, NG_009876.1:g.15236C>T, NM_003190.5:c.1313C>T, NM_003190.4:c.1313C>T, NM_172209.3:c.1052C>T, NM_172209.2:c.1052C>T, NM_172208.3:c.1313C>T, NM_172208.2:c.1313C>T, NT_113891.3:g.4715471G>A, NT_113891.2:g.4715577G>A, NT_167247.2:g.4739913G>A, NT_167247.1:g.4745498G>A, NT_167248.2:g.4498408G>A, NT_167248.1:g.4504004G>A, NT_167245.2:g.4547504G>A, NT_167245.1:g.4553089G>A, NP_003181.3:p.Ser438Phe, NP_757346.2:p.Ser351Phe, NP_757345.2:p.Ser438Phe

Select item 145143088017.

rs1451430880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:33305228 (GRCh38)
6:33273005 (GRCh37)
Canonical SPDI:: NC_000006.12:33305227:T:A
Gene:: TAPBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33305228T>A, NC_000006.11:g.33273005T>A, NG_009876.1:g.13985A>T, NM_003190.5:c.629A>T, NM_003190.4:c.629A>T, NM_172209.3:c.368A>T, NM_172209.2:c.368A>T, NM_172208.3:c.629A>T, NM_172208.2:c.629A>T, NM_001410875.1:c.629A>T, NT_113891.3:g.4716722T>A, NT_113891.2:g.4716828T>A, NT_167247.2:g.4741164T>A, NT_167247.1:g.4746749T>A, NT_167248.2:g.4499659T>A, NT_167248.1:g.4505255T>A, NT_167245.2:g.4548755T>A, NT_167245.1:g.4554340T>A, XM_011514828.4:c.629A>T, XM_011514828.3:c.629A>T, XM_011514828.2:c.629A>T, XM_011514828.1:c.629A>T, XM_017011227.2:c.629A>T, XM_047419272.1:c.368A>T, XM_047419271.1:c.368A>T, NP_003181.3:p.His210Leu, NP_757346.2:p.His123Leu, NP_757345.2:p.His210Leu, XP_011513130.1:p.His210Leu, XP_016866716.1:p.His210Leu, XP_047275228.1:p.His123Leu, XP_047275227.1:p.His123Leu

Select item 145013880018.

rs1450138800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33304538 (GRCh38)
6:33272315 (GRCh37)
Canonical SPDI:: NC_000006.12:33304537:A:G
Gene:: TAPBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000025/6 (GnomAD_exomes)
G=0.00005/7 (GnomAD)
G=0.000136/36 (TOPMED)
HGVS:: NC_000006.12:g.33304538A>G, NC_000006.11:g.33272315A>G, NG_009876.1:g.14675T>C, NM_003190.5:c.969T>C, NM_003190.4:c.969T>C, NM_172209.3:c.708T>C, NM_172209.2:c.708T>C, NM_172208.3:c.969T>C, NM_172208.2:c.969T>C, NM_001410875.1:c.969T>C, NT_113891.3:g.4716032A>G, NT_113891.2:g.4716138A>G, NT_167247.2:g.4740474A>G, NT_167247.1:g.4746059A>G, NT_167248.2:g.4498969A>G, NT_167248.1:g.4504565A>G, NT_167245.2:g.4548065A>G, NT_167245.1:g.4553650A>G, XM_011514828.4:c.969T>C, XM_011514828.3:c.969T>C, XM_011514828.2:c.969T>C, XM_011514828.1:c.969T>C, XM_017011227.2:c.969T>C, XM_047419272.1:c.708T>C, XM_047419271.1:c.708T>C

Select item 143769387519.

rs1437693875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33304496 (GRCh38)
6:33272273 (GRCh37)
Canonical SPDI:: NC_000006.12:33304495:C:T
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.33304496C>T, NC_000006.11:g.33272273C>T, NG_009876.1:g.14717G>A, NM_003190.5:c.1011G>A, NM_003190.4:c.1011G>A, NM_172209.3:c.750G>A, NM_172209.2:c.750G>A, NM_172208.3:c.1011G>A, NM_172208.2:c.1011G>A, NM_001410875.1:c.1011G>A, NT_113891.3:g.4715990C>T, NT_113891.2:g.4716096C>T, NT_167247.2:g.4740432C>T, NT_167247.1:g.4746017C>T, NT_167248.2:g.4498927C>T, NT_167248.1:g.4504523C>T, NT_167245.2:g.4548023C>T, NT_167245.1:g.4553608C>T, XM_011514828.4:c.1011G>A, XM_011514828.3:c.1011G>A, XM_011514828.2:c.1011G>A, XM_011514828.1:c.1011G>A, XM_017011227.2:c.1011G>A, XM_047419271.1:c.750G>A, XM_047419272.1:c.750G>A

Select item 143484877520.

rs1434848775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33304994 (GRCh38)
6:33272771 (GRCh37)
Canonical SPDI:: NC_000006.12:33304993:A:G
Gene:: TAPBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33304994A>G, NC_000006.11:g.33272771A>G, NG_009876.1:g.14219T>C, NM_003190.5:c.863T>C, NM_003190.4:c.863T>C, NM_172209.3:c.602T>C, NM_172209.2:c.602T>C, NM_172208.3:c.863T>C, NM_172208.2:c.863T>C, NM_001410875.1:c.863T>C, NT_113891.3:g.4716488A>G, NT_113891.2:g.4716594A>G, NT_167247.2:g.4740930A>G, NT_167247.1:g.4746515A>G, NT_167248.2:g.4499425A>G, NT_167248.1:g.4505021A>G, NT_167245.2:g.4548521A>G, NT_167245.1:g.4554106A>G, XM_011514828.4:c.863T>C, XM_011514828.3:c.863T>C, XM_011514828.2:c.863T>C, XM_011514828.1:c.863T>C, XM_017011227.2:c.863T>C, XM_047419272.1:c.602T>C, XM_047419271.1:c.602T>C, NP_003181.3:p.Val288Ala, NP_757346.2:p.Val201Ala, NP_757345.2:p.Val288Ala, XP_011513130.1:p.Val288Ala, XP_016866716.1:p.Val288Ala, XP_047275228.1:p.Val201Ala, XP_047275227.1:p.Val201Ala

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