Product Details

SNP ID
rs143063749
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:74350500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAAGAGCAGAGAGGGAGCCCGCC[C/T]TTGAGGGCGGAAGGCAAGGCCGACG
Phenotype
MIM: 606598
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GDAP1 PubMed Links

Gene Details

Gene
GDAP1
Gene Name
ganglioside induced differentiation associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040875.2 1250 Intron NP_001035808.1
NM_018972.2 1250 Silent Mutation CCC,CCT P13P NP_061845.2
XM_011517551.2 1250 Silent Mutation CCC,CCT P169P XP_011515853.1
XM_011517552.2 1250 UTR 5 XP_011515854.1
XM_017013585.1 1250 Silent Mutation CCC,CCT P169P XP_016869074.1
XM_017013586.1 1250 Silent Mutation CCC,CCT P169P XP_016869075.1

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