Product Details

SNP ID

rs147611242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56102963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACACTCCAGAAACTGTTTGATCT[C/T]ATAGAGGCAAGGCTGCTGCTGCTGT

Phenotype

MIM: 616244 MIM: 172470

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

PHKG1

Gene Name

phosphorylase kinase catalytic subunit gamma 1

There are no transcripts associated with this gene.

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