Product Details

SNP ID

rs74968466

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123409467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGCTTACTGACGTGATTTTGAG[C/T]GTGTTTCCCAGAACTCTGAGCTCTT

Phenotype

MIM: 607240 MIM: 614093

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KMT5A PubMed Links

Gene Details

Gene

KMT5A

Gene Name

lysine methyltransferase 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324504.1	2045	Intron			NP_001311433.1
NM_001324505.1	2045	Intron			NP_001311434.1
NM_001324506.1	2045	Intron			NP_001311435.1
NM_020382.4	2045	Intron			NP_065115.3
XM_006719394.3	2045	Intron			XP_006719457.1
XM_011538333.2	2045	Intron			XP_011536635.1

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	2045	Intron			NP_659495.1
XM_011538012.2	2045	UTR 3			XP_011536314.1
XM_017018959.1	2045	Intron			XP_016874448.1

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