Product Details

SNP ID
hCV63472994
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56714398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTTCACTCCGACTCTGTTTTGC[C/T]TTACTGACTGGTTCTTCATCAATTT
Phenotype
MIM: 601234
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NACA PubMed Links

Gene Details

Gene
NACA
Gene Name
nascent polypeptide-associated complex alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113201.2 480 Silent Mutation AAA,AAG K66K NP_001106672.1
NM_001113202.1 480 Silent Mutation AAA,AAG K66K NP_001106673.1
NM_001113203.2 480 Silent Mutation AAA,AAG K776K NP_001106674.2
NM_001320193.1 480 Intron NP_001307122.1
NM_001320194.1 480 Silent Mutation AAA,AAG K66K NP_001307123.1
NM_005594.5 480 Silent Mutation AAA,AAG K66K NP_005585.1

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