Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGATGATACTAGTTTTGACCCTAA[A/T]CCTAAACCTGTGAGCAGGATAGTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 300921 | ||||||||||||||||||||
Literature Links: |
BHLHB9 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 |
BHLHB9 - basic helix-loop-helix domain containing, class B, 9 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142524.1 | 1202 | Missense Mutation | AAA,AAT | K,N 189 | NP_001135996.1 | |
NM_001142525.1 | 1202 | Missense Mutation | AAA,AAT | K,N 189 | NP_001135997.1 | |
NM_001142526.1 | 1202 | Intron | NP_001135998.1 | |||
NM_001142527.1 | 1202 | Intron | NP_001135999.1 | |||
NM_001142528.1 | 1202 | Intron | NP_001136000.1 | |||
NM_001142529.1 | 1202 | Intron | NP_001136001.1 | |||
NM_001142530.1 | 1202 | Intron | NP_001136002.1 | |||
NM_030639.2 | 1202 | Missense Mutation | AAA,AAT | K,N 189 | NP_085142.1 |