Product Details

SNP ID
rs201950894
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:56217337 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAATGCCTGTACACAGAATTCT[A/G]TCGTGATGCAGAGAAGAAAGAACGG
Phenotype
MIM: 611238 MIM: 603026
Polymorphism
A/G, 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_001011667.2 376 UTR 3 NP_001011667.1
NM_001011668.2 376 Missense Mutation ATC,GTC I79V NP_001011668.1
NM_001011669.2 376 UTR 3 NP_001011669.1
NM_001011670.2 376 UTR 3 NP_001011670.1
NM_001011671.2 376 Missense Mutation ATC,GTC I54V NP_001011671.1
NM_001317858.1 376 UTR 3 NP_001304787.1
NM_001317859.1 376 Silent Mutation CTA,CTG L45L NP_001304788.1
NM_024300.4 376 Missense Mutation ATC,GTC I66V NP_077276.2
Gene
PLAG1
Gene Name
PLAG1 zinc finger
There are no transcripts associated with this gene.

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