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SNP ID: rs139694386
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:41828174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGCGGAGCGAGTTACGAGAATTCC[C/T]GGCCGCTGCAAGGGGTGAGTGGCTC
Phenotype: MIM: 616786
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: JMJD7 PubMed Links

Gene Details

Gene: JMJD7
Gene Name: jumonji domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114632.1	90	Missense Mutation	CCG,CTG	P17L	NP_001108104.1

Gene: JMJD7-PLA2G4B
Gene Name: JMJD7-PLA2G4B readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198588.1	90	Missense Mutation	CCG,CTG	P17L	NP_001185517.1
NM_005090.3	90	Missense Mutation	CCG,CTG	P17L	NP_005081.1

Gene: MAPKBP1
Gene Name: mitogen-activated protein kinase binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128608.1	90	Intron			NP_001122080.1
NM_001265611.1	90	Intron			NP_001252540.1
NM_014994.2	90	Intron			NP_055809.2
XM_006720438.1	90	Intron			XP_006720501.1
XM_006720439.2	90	Intron			XP_006720502.1
XM_011521383.1	90	Intron			XP_011519685.1
XM_011521384.2	90	Intron			XP_011519686.1
XM_017022017.1	90	Intron			XP_016877506.1

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