Product Details

SNP ID
rs146436296
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123395132 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGACGCCAGGAAAGGTCCCCTGGT[A/G]CCTTTTCCAAACCAAAAATCTGAAG
Phenotype
MIM: 607240
Polymorphism
A/G, Transition 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_001324504.1 674 Intron NP_001311433.1
NM_001324505.1 674 Intron NP_001311434.1
NM_001324506.1 674 Intron NP_001311435.1
NM_020382.4 674 Intron NP_065115.3
XM_006719394.3 674 Intron XP_006719457.1
XM_011538333.2 674 Silent Mutation GTA,GTG V68V XP_011536635.1

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