Product Details

SNP ID

rs2293447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49018932 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGCCCTCCCCCGGGTCCTCGCGGAC[C/T]GCACGGATCCGGCTGACGGCGAGGG

Phenotype

MIM: 602113 MIM: 602742

Polymorphism

C/T, 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	44	Intron			NP_003473.3
XM_005269162.4	44	Intron			XP_005269219.1
XM_006719614.3	44	Intron			XP_006719677.1
XM_006719616.3	44	Intron			XP_006719679.1
XM_011538770.2	44	Intron			XP_011537072.1
XM_011538771.2	44	Intron			XP_011537073.1
XM_011538772.2	44	Intron			XP_011537074.1
XM_011538773.2	44	Intron			XP_011537075.1
XM_011538774.2	44	Intron			XP_011537076.1
XM_011538776.2	44	Intron			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	44	Intron			NP_001193638.1
NM_001206710.1	44	Intron			NP_001193639.1
NM_002733.4	44	Intron			NP_002724.1
XM_005269019.4	44	Silent Mutation			XP_005269076.1
XM_005269020.2	44	Intron			XP_005269077.1
XM_006719499.2	44	Intron			XP_006719562.1
XM_011538562.2	44	Intron			XP_011536864.1
XM_017019622.1	44	Intron			XP_016875111.1
XM_017019623.1	44	Intron			XP_016875112.1

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