Product Details

SNP ID

rs28642812

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123409363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTATTGCCAGGCAAGGCCACGTG[C/T]GTGTCTTTCTGTTTTTACAATTTGA

Phenotype

MIM: 607240 MIM: 614093

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KMT5A PubMed Links

Additional Information

For this assay, SNP(s) [rs138327565] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2149	Intron			NP_001311433.1
NM_001324505.1	2149	Intron			NP_001311434.1
NM_001324506.1	2149	Intron			NP_001311435.1
NM_020382.4	2149	Intron			NP_065115.3
XM_006719394.3	2149	Intron			XP_006719457.1
XM_011538333.2	2149	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	2149	Intron			NP_659495.1
XM_011538012.2	2149	UTR 3			XP_011536314.1
XM_017018959.1	2149	Intron			XP_016874448.1

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