Product Details

SNP ID
rs201403200
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:56216423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTTTTAAATGATGCCTCTCTTA[C/T]ATCTGTAAGGAATCTGATGCTTCCA
Phenotype
MIM: 611238 MIM: 603026
Polymorphism
C/T, Transition 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_001011667.2 433 Missense Mutation ACA,ATA T55I NP_001011667.1
NM_001011668.2 433 Intron NP_001011668.1
NM_001011669.2 433 Missense Mutation ACA,ATA T42I NP_001011669.1
NM_001011670.2 433 Missense Mutation ACA,ATA T30I NP_001011670.1
NM_001011671.2 433 Intron NP_001011671.1
NM_001317858.1 433 Missense Mutation ACA,ATA T42I NP_001304787.1
NM_001317859.1 433 Intron NP_001304788.1
NM_024300.4 433 Intron NP_077276.2
Gene
PLAG1
Gene Name
PLAG1 zinc finger
There are no transcripts associated with this gene.

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