Product Details

SNP ID

rs117642839

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56105941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCAACTTCAACTATTCCTCATC[C/T]GTTCAACGTTCAGATGCTTTCAACA

Phenotype

MIM: 616244

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHCHD2 PubMed Links

Gene Details

Gene

CHCHD2

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320327.1		Intron			NP_001307256.1
NM_016139.3		Intron			NP_057223.1

Gene

NUPR2

Gene Name

nuclear protein 2, transcriptional regulator

There are no transcripts associated with this gene.

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