Product Details

SNP ID

rs7488249

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49022892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATGGGGCCTGGGAGGTGATATAA[A/T]CCATGACAAGACAGCTCTCCCTCAG

Phenotype

MIM: 602113 MIM: 602742

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KMT2D PubMed Links

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.

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