Product Details

SNP ID
rs147658323
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:56216439 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTCTTATATCTGTAAGGAATCT[C/G]ATGCTTCCACCAGATGTCTGGATGA
Phenotype
MIM: 611238 MIM: 603026
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CHCHD7 PubMed Links

Gene Details

Gene
CHCHD7
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001011667.2 277 Silent Mutation CTC,CTG L60L NP_001011667.1
NM_001011668.2 277 Missense Mutation CAT,GAT H46D NP_001011668.1
NM_001011669.2 277 Silent Mutation CTC,CTG L47L NP_001011669.1
NM_001011670.2 277 Silent Mutation CTC,CTG L35L NP_001011670.1
NM_001011671.2 277 Missense Mutation CAT,GAT H21D NP_001011671.1
NM_001317858.1 277 Silent Mutation CTC,CTG L47L NP_001304787.1
NM_001317859.1 277 Missense Mutation CAT,GAT H21D NP_001304788.1
NM_024300.4 277 Missense Mutation CAT,GAT H33D NP_077276.2
Gene
PLAG1
Gene Name
PLAG1 zinc finger
There are no transcripts associated with this gene.

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