Product Details

SNP ID

rs139469030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49019138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGGCGCTGAGGGTGGAGGGAGA[A/G]AGGGCGCTTTAAAAAAGGGAACCAT

Phenotype

MIM: 602113 MIM: 602742

Polymorphism

A/G, Transition 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	20592	UTR 3			NP_003473.3
XM_005269162.4	20592	UTR 3			XP_005269219.1
XM_006719614.3	20592	UTR 3			XP_006719677.1
XM_006719616.3	20592	UTR 3			XP_006719679.1
XM_011538770.2	20592	UTR 3			XP_011537072.1
XM_011538771.2	20592	UTR 3			XP_011537073.1
XM_011538772.2	20592	UTR 3			XP_011537074.1
XM_011538773.2	20592	UTR 3			XP_011537075.1
XM_011538774.2	20592	UTR 3			XP_011537076.1
XM_011538776.2	20592	UTR 3			XP_011537078.1

Gene

PRKAG1

Gene Name

protein kinase AMP-activated non-catalytic subunit gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206709.1	20592	Intron			NP_001193638.1
NM_001206710.1	20592	Intron			NP_001193639.1
NM_002733.4	20592	Intron			NP_002724.1
XM_005269019.4	20592	Intron			XP_005269076.1
XM_005269020.2	20592	Intron			XP_005269077.1
XM_006719499.2	20592	Intron			XP_006719562.1
XM_011538562.2	20592	Intron			XP_011536864.1
XM_017019622.1	20592	Intron			XP_016875111.1
XM_017019623.1	20592	Intron			XP_016875112.1

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