Product Details

SNP ID

rs11168827

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49025894 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTTAGGATTAGGTTGGGTGAGGCA[C/G]ATGATAGTCTCAGAACTGTTTCCTT

Phenotype

MIM: 602113 MIM: 602742

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

KMT2D PubMed Links

Additional Information

For this assay, SNP(s) [rs114640737] 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

KMT2D

Gene Name

lysine methyltransferase 2D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003482.3		Intron			NP_003473.3
XM_005269162.4		Intron			XP_005269219.1
XM_006719614.3		Intron			XP_006719677.1
XM_006719616.3		Intron			XP_006719679.1
XM_011538770.2		Intron			XP_011537072.1
XM_011538771.2		Intron			XP_011537073.1
XM_011538772.2		Intron			XP_011537074.1
XM_011538773.2		Intron			XP_011537075.1
XM_011538774.2		Intron			XP_011537076.1
XM_011538776.2		Intron			XP_011537078.1

Gene

PRKAG1

Gene Name

protein kinase AMP-activated non-catalytic subunit gamma 1

There are no transcripts associated with this gene.

View Full Product Details