Product Details

SNP ID: rs139089532
Assay Type: Functionally tested
NCBI dbSNP Submissions: 13
Location: Chr.1:205094896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCTGTCAAGGGCTGGCTGAGTTCC[A/G]CCTGCACTTTACCCTTCGCTGATCC
Phenotype: MIM: 600697
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: RBBP5 PubMed Links

Gene Details

Gene: RBBP5
Gene Name: RB binding protein 5, histone lysine methyltransferase complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193272.1	1712	Intron			NP_001180201.1
NM_001193273.1	1712	Missense Mutation	GCG,GTG	A395V	NP_001180202.1
NM_005057.3	1712	Missense Mutation	GCG,GTG	A522V	NP_005048.2
XM_011509833.2	1712	Missense Mutation	GCG,GTG	A522V	XP_011508135.1