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SNP ID: rs1803181
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.21:25724650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTTACTTTATTTCTTCAGGCCTGG[T/G]GTTTTTCGATGACTTCAAATTTGGG
Phenotype: MIM: 603152 MIM: 606870
Polymorphism: T/G, Transversion substitution
Allele Nomenclature
Literature Links: ATP5J PubMed Links

Gene Details

Gene: ATP5J
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003696.1	664	Missense Mutation	CAC,CCC	H106P	NP_001003696.1
NM_001003697.1	664	Missense Mutation	CAC,CCC	H106P	NP_001003697.1
NM_001003701.1	664	Missense Mutation	CAC,CCC	H114P	NP_001003701.1
NM_001003703.1	664	Missense Mutation	CAC,CCC	H106P	NP_001003703.1
NM_001320266.1	664	Missense Mutation	CAC,CCC	H106P	NP_001307195.1
NM_001320267.1	664	Missense Mutation	CAC,CCC	H106P	NP_001307196.1
NM_001685.4	664	Missense Mutation	CAC,CCC	H106P	NP_001676.2

Gene: JAM2
Gene Name: junctional adhesion molecule 2

There are no transcripts associated with this gene.

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