Product Details

SNP ID
rs111995799
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:14125001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCCGGACCGTATAGTTTCCAGG[A/G]CGTCTCGCCGCGCGCATGCGCAGAA
Phenotype
MIM: 611077 MIM: 612048
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHCHD4 PubMed Links

Gene Details

Gene
CHCHD4
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098502.1 62 Intron NP_001091972.1
NM_144636.2 62 Intron NP_653237.1
Gene
TMEM43
Gene Name
transmembrane protein 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024334.2 62 UTR 5 NP_077310.1
XM_017007176.1 62 Intron XP_016862665.1

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