Product Details

SNP ID
rs148047837
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49066476 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCCTATCCCCCAGGGCCACTTAC[C/T]GGGTTTTCCCATGGCCTTCATGTAG
Phenotype
MIM: 602113
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KMT2D PubMed Links

Gene Details

Gene
KMT2D
Gene Name
lysine methyltransferase 2D
There are no transcripts associated with this gene.

Gene
RHEBL1
Gene Name
Ras homolog enriched in brain like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303126.1 640 Missense Mutation CAG,CGG Q109R NP_001290055.1
NM_144593.2 640 Missense Mutation CAG,CGG Q111R NP_653194.1
XM_017018794.1 640 Missense Mutation CAG,CGG Q111R XP_016874283.1
XM_017018795.1 640 Missense Mutation CAG,CGG Q109R XP_016874284.1

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