Product Details

SNP ID: rs143126829
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:99419994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCTGCCCCCAAGGGCACATCCGTC[A/G]TCAGCCTCCTTGCCGGTGTCCTGGT
Phenotype: MIM: 603477 MIM: 614774
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ATP5J2-PTCD1 PubMed Links

Gene Details

Gene: ATP5J2-PTCD1
Gene Name: ATP5J2-PTCD1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198879.1	2250	Silent Mutation	GAC,GAT	D741D	NP_001185808.1

Gene: BUD31
Gene Name: BUD31 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003910.3	2250	Intron			NP_003901.2
XM_005250670.4	2250	Intron			XP_005250727.1
XM_005250671.4	2250	Intron			XP_005250728.1
XM_005250674.3	2250	Intron			XP_005250731.1
XM_017012760.1	2250	Intron			XP_016868249.1
XM_017012761.1	2250	Intron			XP_016868250.1
XM_017012762.1	2250	Intron			XP_016868251.1

Gene: PTCD1
Gene Name: pentatricopeptide repeat domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015545.3	2250	Silent Mutation	GAC,GAT	D692D	NP_056360.2

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