SNP Links for Protein (Select 41281811) - SNP

Select item 14904316321.

rs1490431632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1979297 (GRCh38)
16:2029298 (GRCh37)
Canonical SPDI:: NC_000016.10:1979296:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1979297G>A, NC_000016.9:g.2029298G>A, NG_016288.1:g.149G>A, NW_025791799.1:g.45445G>A, XM_005255099.6:c.886C>T, XM_005255099.5:c.886C>T, XM_005255099.4:c.886C>T, XM_005255099.3:c.886C>T, XM_005255099.2:c.886C>T, XM_005255099.1:c.886C>T, NM_144603.4:c.868C>T, NM_144603.3:c.868C>T, NM_172168.3:c.886C>T, NM_172168.2:c.886C>T, NM_172167.3:c.871C>T, NM_172167.2:c.871C>T, NM_001267721.2:c.883C>T, NM_001267721.1:c.883C>T, NM_006453.3:c.*612G>A

Select item 14896059022.

rs1489605902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1979132 (GRCh38)
16:2029133 (GRCh37)
Canonical SPDI:: NC_000016.10:1979131:C:G,NC_000016.10:1979131:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1979132C>G, NC_000016.10:g.1979132C>T, NC_000016.9:g.2029133C>G, NC_000016.9:g.2029133C>T, NW_025791799.1:g.45280C>G, NW_025791799.1:g.45280C>T, XM_005255099.6:c.1051G>C, XM_005255099.6:c.1051G>A, XM_005255099.5:c.1051G>C, XM_005255099.5:c.1051G>A, XM_005255099.4:c.1051G>C, XM_005255099.4:c.1051G>A, XM_005255099.3:c.1051G>C, XM_005255099.3:c.1051G>A, XM_005255099.2:c.1051G>C, XM_005255099.2:c.1051G>A, XM_005255099.1:c.1051G>C, XM_005255099.1:c.1051G>A, NM_144603.4:c.1033G>C, NM_144603.4:c.1033G>A, NM_144603.3:c.1033G>C, NM_144603.3:c.1033G>A, NM_172168.3:c.1051G>C, NM_172168.3:c.1051G>A, NM_172168.2:c.1051G>C, NM_172168.2:c.1051G>A, NM_172167.3:c.1036G>C, NM_172167.3:c.1036G>A, NM_172167.2:c.1036G>C, NM_172167.2:c.1036G>A, NM_006453.3:c.*447C>G, NM_006453.3:c.*447C>T, NM_001267721.2:c.1048G>C, NM_001267721.2:c.1048G>A, NM_001267721.1:c.1048G>C, NM_001267721.1:c.1048G>A, XP_005255156.1:p.Ala351Pro, XP_005255156.1:p.Ala351Thr, NP_653204.1:p.Ala345Pro, NP_653204.1:p.Ala345Thr, NP_751908.1:p.Ala351Pro, NP_751908.1:p.Ala351Thr, NP_751907.1:p.Ala346Pro, NP_751907.1:p.Ala346Thr, NP_001254650.1:p.Ala350Pro, NP_001254650.1:p.Ala350Thr

Select item 14861124403.

rs1486112440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:1980685 (GRCh38)
16:2030686 (GRCh37)
Canonical SPDI:: NC_000016.10:1980684:C:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1980685C>A, NC_000016.9:g.2030686C>A, NG_016288.1:g.1537C>A, NW_025791799.1:g.46833C>A, XM_005255099.6:c.194G>T, XM_005255099.5:c.194G>T, XM_005255099.4:c.194G>T, XM_005255099.3:c.194G>T, XM_005255099.2:c.194G>T, XM_005255099.1:c.194G>T, NM_144603.4:c.191G>T, NM_144603.3:c.191G>T, NM_172168.3:c.194G>T, NM_172168.2:c.194G>T, NM_172167.3:c.194G>T, NM_172167.2:c.194G>T, NM_001267721.2:c.191G>T, NM_001267721.1:c.191G>T, NM_006453.3:c.*2000C>A, XP_005255156.1:p.Arg65Ile, NP_653204.1:p.Arg64Ile, NP_751908.1:p.Arg65Ile, NP_751907.1:p.Arg65Ile, NP_001254650.1:p.Arg64Ile

Select item 14852437874.

rs1485243787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1979240 (GRCh38)
16:2029241 (GRCh37)
Canonical SPDI:: NC_000016.10:1979239:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1979240C>T, NC_000016.9:g.2029241C>T, NG_016288.1:g.92C>T, NW_025791799.1:g.45388C>T, XM_005255099.6:c.943G>A, XM_005255099.5:c.943G>A, XM_005255099.4:c.943G>A, XM_005255099.3:c.943G>A, XM_005255099.2:c.943G>A, XM_005255099.1:c.943G>A, NM_144603.4:c.925G>A, NM_144603.3:c.925G>A, NM_172168.3:c.943G>A, NM_172168.2:c.943G>A, NM_172167.3:c.928G>A, NM_172167.2:c.928G>A, NM_001267721.2:c.940G>A, NM_001267721.1:c.940G>A, NM_006453.3:c.*555C>T, XP_005255156.1:p.Ala315Thr, NP_653204.1:p.Ala309Thr, NP_751908.1:p.Ala315Thr, NP_751907.1:p.Ala310Thr, NP_001254650.1:p.Ala314Thr

Select item 14849806875.

rs1484980687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1980103 (GRCh38)
16:2030104 (GRCh37)
Canonical SPDI:: NC_000016.10:1980102:A:G
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000248/4 (TOMMO)
HGVS:: NC_000016.10:g.1980103A>G, NC_000016.9:g.2030104A>G, NG_016288.1:g.955A>G, NW_025791799.1:g.46251A>G, XM_005255099.6:c.495T>C, XM_005255099.5:c.495T>C, XM_005255099.4:c.495T>C, XM_005255099.3:c.495T>C, XM_005255099.2:c.495T>C, XM_005255099.1:c.495T>C, NM_144603.4:c.477T>C, NM_144603.3:c.477T>C, NM_172168.3:c.495T>C, NM_172168.2:c.495T>C, NM_172167.3:c.480T>C, NM_172167.2:c.480T>C, NM_001267721.2:c.492T>C, NM_001267721.1:c.492T>C, NM_006453.3:c.*1418A>G

Select item 14827000866.

rs1482700086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1980370 (GRCh38)
16:2030371 (GRCh37)
Canonical SPDI:: NC_000016.10:1980369:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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_000016.10:g.1980370C>T, NC_000016.9:g.2030371C>T, NG_016288.1:g.1222C>T, NG_080304.1:g.243C>T, NW_025791799.1:g.46518C>T, XM_005255099.6:c.413G>A, XM_005255099.5:c.413G>A, XM_005255099.4:c.413G>A, XM_005255099.3:c.413G>A, XM_005255099.2:c.413G>A, XM_005255099.1:c.413G>A, NM_144603.4:c.395G>A, NM_144603.3:c.395G>A, NM_172168.3:c.413G>A, NM_172168.2:c.413G>A, NM_172167.3:c.398G>A, NM_172167.2:c.398G>A, NM_001267721.2:c.410G>A, NM_001267721.1:c.410G>A, NM_006453.3:c.*1685C>T, XP_005255156.1:p.Gly138Asp, NP_653204.1:p.Gly132Asp, NP_751908.1:p.Gly138Asp, NP_751907.1:p.Gly133Asp, NP_001254650.1:p.Gly137Asp

Select item 14808414547.

rs1480841454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1980405 (GRCh38)
16:2030406 (GRCh37)
Canonical SPDI:: NC_000016.10:1980404:C:A,NC_000016.10:1980404:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
T=0.000343/1 (KOREAN)
HGVS:: NC_000016.10:g.1980405C>A, NC_000016.10:g.1980405C>T, NC_000016.9:g.2030406C>A, NC_000016.9:g.2030406C>T, NG_016288.1:g.1257C>A, NG_016288.1:g.1257C>T, NG_080304.1:g.278C>A, NG_080304.1:g.278C>T, NW_025791799.1:g.46553C>A, NW_025791799.1:g.46553C>T, XM_005255099.6:c.378G>T, XM_005255099.6:c.378G>A, XM_005255099.5:c.378G>T, XM_005255099.5:c.378G>A, XM_005255099.4:c.378G>T, XM_005255099.4:c.378G>A, XM_005255099.3:c.378G>T, XM_005255099.3:c.378G>A, XM_005255099.2:c.378G>T, XM_005255099.2:c.378G>A, XM_005255099.1:c.378G>T, XM_005255099.1:c.378G>A, NM_144603.4:c.360G>T, NM_144603.4:c.360G>A, NM_144603.3:c.360G>T, NM_144603.3:c.360G>A, NM_172168.3:c.378G>T, NM_172168.3:c.378G>A, NM_172168.2:c.378G>T, NM_172168.2:c.378G>A, NM_172167.3:c.363G>T, NM_172167.3:c.363G>A, NM_172167.2:c.363G>T, NM_172167.2:c.363G>A, NM_001267721.2:c.375G>T, NM_001267721.2:c.375G>A, NM_001267721.1:c.375G>T, NM_001267721.1:c.375G>A, NM_006453.3:c.*1720C>A, NM_006453.3:c.*1720C>T

Select item 14801526428.

rs1480152642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:1980981 (GRCh38)
16:2030982 (GRCh37)
Canonical SPDI:: NC_000016.10:1980980:G:A,NC_000016.10:1980980:G:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1980981G>A, NC_000016.10:g.1980981G>T, NC_000016.9:g.2030982G>A, NC_000016.9:g.2030982G>T, NG_016288.1:g.1833G>A, NG_016288.1:g.1833G>T, NW_025791799.1:g.47129G>A, NW_025791799.1:g.47129G>T, XM_005255099.6:c.105C>T, XM_005255099.6:c.105C>A, XM_005255099.5:c.105C>T, XM_005255099.5:c.105C>A, XM_005255099.4:c.105C>T, XM_005255099.4:c.105C>A, XM_005255099.3:c.105C>T, XM_005255099.3:c.105C>A, XM_005255099.2:c.105C>T, XM_005255099.2:c.105C>A, XM_005255099.1:c.105C>T, XM_005255099.1:c.105C>A, NM_144603.4:c.105C>T, NM_144603.4:c.105C>A, NM_144603.3:c.105C>T, NM_144603.3:c.105C>A, NM_172168.3:c.105C>T, NM_172168.3:c.105C>A, NM_172168.2:c.105C>T, NM_172168.2:c.105C>A, NM_172167.3:c.105C>T, NM_172167.3:c.105C>A, NM_172167.2:c.105C>T, NM_172167.2:c.105C>A, NM_001267721.2:c.105C>T, NM_001267721.2:c.105C>A, NM_001267721.1:c.105C>T, NM_001267721.1:c.105C>A, NM_006453.3:c.*2296G>A, NM_006453.3:c.*2296G>T, XP_005255156.1:p.Asp35Glu, NP_653204.1:p.Asp35Glu, NP_751908.1:p.Asp35Glu, NP_751907.1:p.Asp35Glu, NP_001254650.1:p.Asp35Glu

Select item 14779705609.

rs1477970560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1980399 (GRCh38)
16:2030400 (GRCh37)
Canonical SPDI:: NC_000016.10:1980398:G:A,NC_000016.10:1980398:G:C
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1980399G>A, NC_000016.10:g.1980399G>C, NC_000016.9:g.2030400G>A, NC_000016.9:g.2030400G>C, NG_016288.1:g.1251G>A, NG_016288.1:g.1251G>C, NG_080304.1:g.272G>A, NG_080304.1:g.272G>C, NW_025791799.1:g.46547G>A, NW_025791799.1:g.46547G>C, XM_005255099.6:c.384C>T, XM_005255099.6:c.384C>G, XM_005255099.5:c.384C>T, XM_005255099.5:c.384C>G, XM_005255099.4:c.384C>T, XM_005255099.4:c.384C>G, XM_005255099.3:c.384C>T, XM_005255099.3:c.384C>G, XM_005255099.2:c.384C>T, XM_005255099.2:c.384C>G, XM_005255099.1:c.384C>T, XM_005255099.1:c.384C>G, NM_144603.4:c.366C>T, NM_144603.4:c.366C>G, NM_144603.3:c.366C>T, NM_144603.3:c.366C>G, NM_172168.3:c.384C>T, NM_172168.3:c.384C>G, NM_172168.2:c.384C>T, NM_172168.2:c.384C>G, NM_172167.3:c.369C>T, NM_172167.3:c.369C>G, NM_172167.2:c.369C>T, NM_172167.2:c.369C>G, NM_001267721.2:c.381C>T, NM_001267721.2:c.381C>G, NM_001267721.1:c.381C>T, NM_001267721.1:c.381C>G, NM_006453.3:c.*1714G>A, NM_006453.3:c.*1714G>C

Select item 147485968810.

rs1474859688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1979184 (GRCh38)
16:2029185 (GRCh37)
Canonical SPDI:: NC_000016.10:1979183:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000015/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1979184G>A, NC_000016.9:g.2029185G>A, NG_016288.1:g.36G>A, NW_025791799.1:g.45332G>A, XM_005255099.6:c.999C>T, XM_005255099.5:c.999C>T, XM_005255099.4:c.999C>T, XM_005255099.3:c.999C>T, XM_005255099.2:c.999C>T, XM_005255099.1:c.999C>T, NM_144603.4:c.981C>T, NM_144603.3:c.981C>T, NM_172168.3:c.999C>T, NM_172168.2:c.999C>T, NM_172167.3:c.984C>T, NM_172167.2:c.984C>T, NM_001267721.2:c.996C>T, NM_001267721.1:c.996C>T, NM_006453.3:c.*499G>A

Select item 147333731311.

rs1473337313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1980147 (GRCh38)
16:2030148 (GRCh37)
Canonical SPDI:: NC_000016.10:1980146:G:A,NC_000016.10:1980146:G:C
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1980147G>A, NC_000016.10:g.1980147G>C, NC_000016.9:g.2030148G>A, NC_000016.9:g.2030148G>C, NG_016288.1:g.999G>A, NG_016288.1:g.999G>C, NG_080304.1:g.20G>A, NG_080304.1:g.20G>C, NW_025791799.1:g.46295G>A, NW_025791799.1:g.46295G>C, XM_005255099.6:c.451C>T, XM_005255099.6:c.451C>G, XM_005255099.5:c.451C>T, XM_005255099.5:c.451C>G, XM_005255099.4:c.451C>T, XM_005255099.4:c.451C>G, XM_005255099.3:c.451C>T, XM_005255099.3:c.451C>G, XM_005255099.2:c.451C>T, XM_005255099.2:c.451C>G, XM_005255099.1:c.451C>T, XM_005255099.1:c.451C>G, NM_144603.4:c.433C>T, NM_144603.4:c.433C>G, NM_144603.3:c.433C>T, NM_144603.3:c.433C>G, NM_172168.3:c.451C>T, NM_172168.3:c.451C>G, NM_172168.2:c.451C>T, NM_172168.2:c.451C>G, NM_172167.3:c.436C>T, NM_172167.3:c.436C>G, NM_172167.2:c.436C>T, NM_172167.2:c.436C>G, NM_001267721.2:c.448C>T, NM_001267721.2:c.448C>G, NM_001267721.1:c.448C>T, NM_001267721.1:c.448C>G, NM_006453.3:c.*1462G>A, NM_006453.3:c.*1462G>C, XP_005255156.1:p.Leu151Phe, XP_005255156.1:p.Leu151Val, NP_653204.1:p.Leu145Phe, NP_653204.1:p.Leu145Val, NP_751908.1:p.Leu151Phe, NP_751908.1:p.Leu151Val, NP_751907.1:p.Leu146Phe, NP_751907.1:p.Leu146Val, NP_001254650.1:p.Leu150Phe, NP_001254650.1:p.Leu150Val

Select item 147280565612.

rs1472805656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:1979248 (GRCh38)
16:2029249 (GRCh37)
Canonical SPDI:: NC_000016.10:1979247:G:A,NC_000016.10:1979247:G:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1979248G>A, NC_000016.10:g.1979248G>T, NC_000016.9:g.2029249G>A, NC_000016.9:g.2029249G>T, NG_016288.1:g.100G>A, NG_016288.1:g.100G>T, NW_025791799.1:g.45396G>A, NW_025791799.1:g.45396G>T, XM_005255099.6:c.935C>T, XM_005255099.6:c.935C>A, XM_005255099.5:c.935C>T, XM_005255099.5:c.935C>A, XM_005255099.4:c.935C>T, XM_005255099.4:c.935C>A, XM_005255099.3:c.935C>T, XM_005255099.3:c.935C>A, XM_005255099.2:c.935C>T, XM_005255099.2:c.935C>A, XM_005255099.1:c.935C>T, XM_005255099.1:c.935C>A, NM_144603.4:c.917C>T, NM_144603.4:c.917C>A, NM_144603.3:c.917C>T, NM_144603.3:c.917C>A, NM_172168.3:c.935C>T, NM_172168.3:c.935C>A, NM_172168.2:c.935C>T, NM_172168.2:c.935C>A, NM_172167.3:c.920C>T, NM_172167.3:c.920C>A, NM_172167.2:c.920C>T, NM_172167.2:c.920C>A, NM_001267721.2:c.932C>T, NM_001267721.2:c.932C>A, NM_001267721.1:c.932C>T, NM_001267721.1:c.932C>A, NM_006453.3:c.*563G>A, NM_006453.3:c.*563G>T, XP_005255156.1:p.Ala312Val, XP_005255156.1:p.Ala312Glu, NP_653204.1:p.Ala306Val, NP_653204.1:p.Ala306Glu, NP_751908.1:p.Ala312Val, NP_751908.1:p.Ala312Glu, NP_751907.1:p.Ala307Val, NP_751907.1:p.Ala307Glu, NP_001254650.1:p.Ala311Val, NP_001254650.1:p.Ala311Glu

Select item 147041135213.

rs1470411352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1980376 (GRCh38)
16:2030377 (GRCh37)
Canonical SPDI:: NC_000016.10:1980375:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000016.10:g.1980376G>A, NC_000016.9:g.2030377G>A, NG_016288.1:g.1228G>A, NG_080304.1:g.249G>A, NW_025791799.1:g.46524G>A, XM_005255099.6:c.407C>T, XM_005255099.5:c.407C>T, XM_005255099.4:c.407C>T, XM_005255099.3:c.407C>T, XM_005255099.2:c.407C>T, XM_005255099.1:c.407C>T, NM_144603.4:c.389C>T, NM_144603.3:c.389C>T, NM_172168.3:c.407C>T, NM_172168.2:c.407C>T, NM_172167.3:c.392C>T, NM_172167.2:c.392C>T, NM_001267721.2:c.404C>T, NM_001267721.1:c.404C>T, NM_006453.3:c.*1691G>A, XP_005255156.1:p.Pro136Leu, NP_653204.1:p.Pro130Leu, NP_751908.1:p.Pro136Leu, NP_751907.1:p.Pro131Leu, NP_001254650.1:p.Pro135Leu

Select item 146965699414.

rs1469656994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1981007 (GRCh38)
16:2031008 (GRCh37)
Canonical SPDI:: NC_000016.10:1981006:A:G
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1981007A>G, NC_000016.9:g.2031008A>G, NG_016288.1:g.1859A>G, NW_025791799.1:g.47155A>G, XM_005255099.6:c.79T>C, XM_005255099.5:c.79T>C, XM_005255099.4:c.79T>C, XM_005255099.3:c.79T>C, XM_005255099.2:c.79T>C, XM_005255099.1:c.79T>C, NM_144603.4:c.79T>C, NM_144603.3:c.79T>C, NM_172168.3:c.79T>C, NM_172168.2:c.79T>C, NM_172167.3:c.79T>C, NM_172167.2:c.79T>C, NM_001267721.2:c.79T>C, NM_001267721.1:c.79T>C, NM_006453.3:c.*2322A>G, XP_005255156.1:p.Ser27Pro, NP_653204.1:p.Ser27Pro, NP_751908.1:p.Ser27Pro, NP_751907.1:p.Ser27Pro, NP_001254650.1:p.Ser27Pro

Select item 146750133515.

rs1467501335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1979482 (GRCh38)
16:2029483 (GRCh37)
Canonical SPDI:: NC_000016.10:1979481:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000016.10:g.1979482G>A, NC_000016.9:g.2029483G>A, NG_016288.1:g.334G>A, NW_025791799.1:g.45630G>A, XM_005255099.6:c.776C>T, XM_005255099.5:c.776C>T, XM_005255099.4:c.776C>T, XM_005255099.3:c.776C>T, XM_005255099.2:c.776C>T, XM_005255099.1:c.776C>T, NM_144603.4:c.758C>T, NM_144603.3:c.758C>T, NM_172168.3:c.776C>T, NM_172168.2:c.776C>T, NM_172167.3:c.761C>T, NM_172167.2:c.761C>T, NM_001267721.2:c.773C>T, NM_001267721.1:c.773C>T, NM_006453.3:c.*797G>A, XP_005255156.1:p.Pro259Leu, NP_653204.1:p.Pro253Leu, NP_751908.1:p.Pro259Leu, NP_751907.1:p.Pro254Leu, NP_001254650.1:p.Pro258Leu

Select item 146599336216.

rs1465993362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:1979869 (GRCh38)
16:2029870 (GRCh37)
Canonical SPDI:: NC_000016.10:1979868:G:A,NC_000016.10:1979868:G:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1979869G>A, NC_000016.10:g.1979869G>T, NC_000016.9:g.2029870G>A, NC_000016.9:g.2029870G>T, NG_016288.1:g.721G>A, NG_016288.1:g.721G>T, NW_025791799.1:g.46017G>A, NW_025791799.1:g.46017G>T, XM_005255099.6:c.636C>T, XM_005255099.6:c.636C>A, XM_005255099.5:c.636C>T, XM_005255099.5:c.636C>A, XM_005255099.4:c.636C>T, XM_005255099.4:c.636C>A, XM_005255099.3:c.636C>T, XM_005255099.3:c.636C>A, XM_005255099.2:c.636C>T, XM_005255099.2:c.636C>A, XM_005255099.1:c.636C>T, XM_005255099.1:c.636C>A, NM_144603.4:c.618C>T, NM_144603.4:c.618C>A, NM_144603.3:c.618C>T, NM_144603.3:c.618C>A, NM_172168.3:c.636C>T, NM_172168.3:c.636C>A, NM_172168.2:c.636C>T, NM_172168.2:c.636C>A, NM_172167.3:c.621C>T, NM_172167.3:c.621C>A, NM_172167.2:c.621C>T, NM_172167.2:c.621C>A, NM_001267721.2:c.633C>T, NM_001267721.2:c.633C>A, NM_001267721.1:c.633C>T, NM_001267721.1:c.633C>A, NM_006453.3:c.*1184G>A, NM_006453.3:c.*1184G>T

Select item 146589563817.

rs1465895638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1979293 (GRCh38)
16:2029294 (GRCh37)
Canonical SPDI:: NC_000016.10:1979292:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.1979293C>T, NC_000016.9:g.2029294C>T, NG_016288.1:g.145C>T, NW_025791799.1:g.45441C>T, XM_005255099.6:c.890G>A, XM_005255099.5:c.890G>A, XM_005255099.4:c.890G>A, XM_005255099.3:c.890G>A, XM_005255099.2:c.890G>A, XM_005255099.1:c.890G>A, NM_144603.4:c.872G>A, NM_144603.3:c.872G>A, NM_172168.3:c.890G>A, NM_172168.2:c.890G>A, NM_172167.3:c.875G>A, NM_172167.2:c.875G>A, NM_001267721.2:c.887G>A, NM_001267721.1:c.887G>A, NM_006453.3:c.*608C>T, XP_005255156.1:p.Gly297Asp, NP_653204.1:p.Gly291Asp, NP_751908.1:p.Gly297Asp, NP_751907.1:p.Gly292Asp, NP_001254650.1:p.Gly296Asp

Select item 146463832418.

rs1464638324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1980066 (GRCh38)
16:2030067 (GRCh37)
Canonical SPDI:: NC_000016.10:1980065:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1980066C>T, NC_000016.9:g.2030067C>T, NG_016288.1:g.918C>T, NW_025791799.1:g.46214C>T, XM_005255099.6:c.532G>A, XM_005255099.5:c.532G>A, XM_005255099.4:c.532G>A, XM_005255099.3:c.532G>A, XM_005255099.2:c.532G>A, XM_005255099.1:c.532G>A, NM_144603.4:c.514G>A, NM_144603.3:c.514G>A, NM_172168.3:c.532G>A, NM_172168.2:c.532G>A, NM_172167.3:c.517G>A, NM_172167.2:c.517G>A, NM_001267721.2:c.529G>A, NM_001267721.1:c.529G>A, NM_006453.3:c.*1381C>T, XP_005255156.1:p.Asp178Asn, NP_653204.1:p.Asp172Asn, NP_751908.1:p.Asp178Asn, NP_751907.1:p.Asp173Asn, NP_001254650.1:p.Asp177Asn

Select item 146079783219.

rs1460797832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGCGCCGC [Show Flanks]
Chromosome:: 16:1979115 (GRCh38)
16:2029117 (GRCh37)
Canonical SPDI:: NC_000016.10:1979115:GGGCGCCGC:GGGCGCCGCGGGCGCCGC
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: inframe_insertion,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGCGCCGCGGGCGCCGC=0./0 (ALFA)
GGGCGCCGC=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1979116_1979124dup, NC_000016.9:g.2029117_2029125dup, NW_025791799.1:g.45264_45272dup, XM_005255099.6:c.1059_1067dup, XM_005255099.5:c.1059_1067dup, XM_005255099.4:c.1059_1067dup, XM_005255099.3:c.1059_1067dup, XM_005255099.2:c.1059_1067dup, XM_005255099.1:c.1059_1067dup, NM_144603.4:c.1041_1049dup, NM_144603.3:c.1041_1049dup, NM_172168.3:c.1059_1067dup, NM_172168.2:c.1059_1067dup, NM_172167.3:c.1044_1052dup, NM_172167.2:c.1044_1052dup, NM_006453.3:c.*431_*439dup, NM_001267721.1:c.1056_1064dup, NM_001267721.2:c.1056_1064dup, XP_005255156.1:p.Pro356_Arg358dup, NP_653204.1:p.Pro350_Arg352dup, NP_751908.1:p.Pro356_Arg358dup, NP_751907.1:p.Pro351_Arg353dup, NP_001254650.1:p.Pro355_Arg357dup

Select item 145537355720.

rs1455373557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1979088 (GRCh38)
16:2029089 (GRCh37)
Canonical SPDI:: NC_000016.10:1979087:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.1979088G>A, NC_000016.9:g.2029089G>A, NW_025791799.1:g.45236G>A, XM_005255099.6:c.1095C>T, XM_005255099.5:c.1095C>T, XM_005255099.4:c.1095C>T, XM_005255099.3:c.1095C>T, XM_005255099.2:c.1095C>T, XM_005255099.1:c.1095C>T, NM_144603.4:c.1077C>T, NM_144603.3:c.1077C>T, NM_172168.3:c.1095C>T, NM_172168.2:c.1095C>T, NM_172167.3:c.1080C>T, NM_172167.2:c.1080C>T, NM_006453.3:c.*403G>A, NM_001267721.1:c.1092C>T, NM_001267721.2:c.1092C>T

dbSNP

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Result Filters

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Items: 1 to 20 of 594

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