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ATGTCTGCCTGTACTTTGGAGGTCA[C/T]GCTAATTCTTCGGGCTTTTCTCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300480 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TAB3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TAB3 - TGF-beta activated kinase 1/MAP3K7 binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152787.4 | 2512 | Missense Mutation | ATG,GTG | M,V 646 | NP_690000.3 | |
XM_005274483.3 | 2512 | Missense Mutation | ATG,GTG | M,V 618 | XP_005274540.2 | |
XM_005274484.2 | 2512 | Intron | XP_005274541.2 | |||
XM_011545488.2 | 2512 | Intron | XP_011543790.1 | |||
XM_017029399.1 | 2512 | Intron | XP_016884888.1 | |||
XM_017029400.1 | 2512 | Intron | XP_016884889.1 | |||
XM_017029401.1 | 2512 | Intron | XP_016884890.1 | |||
XM_017029402.1 | 2512 | Intron | XP_016884891.1 |