Product Details

SNP ID

rs28464523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123412557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCAGCTCTTCCTGGAAGGCAGAG[A/T]GGTTGAAGCCTGTGTGTGGACTTTG

Phenotype

MIM: 607240 MIM: 614093

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KMT5A PubMed Links

Gene Details

Gene

KMT5A

Gene Name

lysine methyltransferase 5A

There are no transcripts associated with this gene.

Gene

RILPL2

Gene Name

Rab interacting lysosomal protein like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145058.2	1844	Intron			NP_659495.1
XM_011538012.2	1844	Intron			XP_011536314.1
XM_017018959.1	1844	UTR 3			XP_016874448.1

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