Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTTTGTAGAGTTTCGGTTTAAATG[A/G]AGAATCTTTCTCTTTACCTTTTGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 600697 | ||||||||||||||||||||
Literature Links: |
RBBP5 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 |
RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193272.1 | 1639 | Intron | NP_001180201.1 | |||
NM_001193273.1 | 1639 | Missense Mutation | CCA,TCA | P,S 371 | NP_001180202.1 | |
NM_005057.3 | 1639 | Missense Mutation | CCA,TCA | P,S 498 | NP_005048.2 | |
XM_011509833.2 | 1639 | Missense Mutation | CCA,TCA | P,S 498 | XP_011508135.1 |