Product Details

SNP ID
rs7969091
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49070666 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TATCAGAGAGTGTTAAGTGCTGTAG[A/G]AGATGGTGTGATGAAAGATGACCAC
Phenotype
MIM: 602113
Polymorphism
A/G, 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 17 Intron NP_001290055.1
NM_144593.2 17 Intron NP_653194.1
XM_017018794.1 17 UTR 5 XP_016874283.1
XM_017018795.1 17 UTR 5 XP_016874284.1

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