Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGCTCACAAAAGGGATTTTGGCA[C/T]ATCTGACAAAGCTTTTTGTCTGAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606237 | ||||||||||||||||||||
Literature Links: |
TGFBRAP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TGFBRAP1 - transforming growth factor beta receptor associated protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142621.2 | 2564 | Missense Mutation | ATA,ATG | I,M 820 | NP_001136093.1 | |
NM_004257.5 | 2564 | Missense Mutation | ATA,ATG | I,M 820 | NP_004248.2 | |
XM_011512193.2 | 2564 | Intron | XP_011510495.1 | |||
XM_017005339.1 | 2564 | Missense Mutation | ATA,ATG | I,M 400 | XP_016860828.1 |