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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