Product Details

SNP ID
rs145928451
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49066633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTCACTTACCTATGCAGAGAGGT[A/G]ACAGAATACACAAGCACATAACCAT
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_001303126.1 569 Silent Mutation GTC,GTT V85V NP_001290055.1
NM_144593.2 569 Silent Mutation GTC,GTT V87V NP_653194.1
XM_017018794.1 569 Silent Mutation GTC,GTT V87V XP_016874283.1
XM_017018795.1 569 Silent Mutation GTC,GTT V85V XP_016874284.1

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