Product Details

SNP ID

rs28495024

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99419060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCCCAAACAGTAGCAGAGCCAC[C/G]TCTGCTCATCGCAGGGTCTGTCATG

Phenotype

MIM: 603477 MIM: 614774

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

ATP5J2-PTCD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs117194181] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	3184	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	3184	Intron			NP_003901.2
XM_005250670.4	3184	Intron			XP_005250727.1
XM_005250671.4	3184	Intron			XP_005250728.1
XM_005250674.3	3184	Intron			XP_005250731.1
XM_017012760.1	3184	Intron			XP_016868249.1
XM_017012761.1	3184	Intron			XP_016868250.1
XM_017012762.1	3184	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	3184	UTR 3			NP_056360.2

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