Product Details

SNP ID
rs61955120
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123395121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGAAGATCAAAGACGCCAGGAAA[C/G]GTCCCCTGGTACCTTTTCCAAACCA
Phenotype
MIM: 607240
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KMT5A PubMed Links

Gene Details

Gene
KMT5A
Gene Name
lysine methyltransferase 5A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324504.1 663 Intron NP_001311433.1
NM_001324505.1 663 Intron NP_001311434.1
NM_001324506.1 663 Intron NP_001311435.1
NM_020382.4 663 Intron NP_065115.3
XM_006719394.3 663 Intron XP_006719457.1
XM_011538333.2 663 Missense Mutation CGT,GGT R65G XP_011536635.1

View Full Product Details