Product Details

SNP ID

rs139508352

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:28236200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCAGCAATGGCAGTGACGGCGT[C/T]GGCGGCGCGGACGTGGCTTGGCGTG

Phenotype

MIM: 614981

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATPIF1 PubMed Links

Gene Details

Gene

ATPIF1

Gene Name

ATPase inhibitory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016311.4	110	Missense Mutation	TCG,TTG	S6L	NP_057395.1
NM_178190.2	110	Missense Mutation	TCG,TTG	S6L	NP_835497.1
NM_178191.2	110	Missense Mutation	TCG,TTG	S6L	NP_835498.1

Gene

DNAJC8

Gene Name

DnaJ heat shock protein family (Hsp40) member C8

There are no transcripts associated with this gene.

Gene

LOC105376896

Gene Name

uncharacterized LOC105376896

There are no transcripts associated with this gene.

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