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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