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SNP ID: rs200503779
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:41840781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACTCTTTTCCCCTCCAGAATGTCA[C/T]GGAACTGAAAGTCTTTGACCAGGAC
Phenotype: MIM: 606088 MIM: 605916
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: JMJD7 PubMed Links

Gene Details

Gene: JMJD7
Gene Name: jumonji domain containing 7

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198588.1	328	Missense Mutation	ACG,ATG	T307M	NP_001185517.1
NM_005090.3	328	Missense Mutation	ACG,ATG	T307M	NP_005081.1

Gene: PLA2G4B
Gene Name: phospholipase A2 group IVB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114633.1	328	Missense Mutation	ACG,ATG	T76M	NP_001108105.1

Gene: SPTBN5
Gene Name: spectrin beta, non-erythrocytic 5

There are no transcripts associated with this gene.

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