Product Details

SNP ID

rs113830555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99417442 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTTTGACAGAACTCTATGAATA[C/T]TGTATTAAAGAAGGCTATGCAGACA

Phenotype

MIM: 603477 MIM: 607075 MIM: 614774

Polymorphism

C/T, 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	4802	UTR 3			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	4802	Silent Mutation	TAC,TAT	Y77Y	NP_003901.2
XM_005250670.4	4802	Silent Mutation	TAC,TAT	Y77Y	XP_005250727.1
XM_005250671.4	4802	Silent Mutation	TAC,TAT	Y77Y	XP_005250728.1
XM_005250674.3	4802	Silent Mutation	TAC,TAT	Y77Y	XP_005250731.1
XM_017012760.1	4802	Silent Mutation	TAC,TAT	Y77Y	XP_016868249.1
XM_017012761.1	4802	Silent Mutation	TAC,TAT	Y77Y	XP_016868250.1
XM_017012762.1	4802	Silent Mutation	TAC,TAT	Y77Y	XP_016868251.1

Gene

PDAP1

Gene Name

PDGFA associated protein 1

There are no transcripts associated with this gene.

Gene

PTCD1

Gene Name

pentatricopeptide repeat domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015545.3	4802	UTR 3			NP_056360.2

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