Product Details

SNP ID
rs200660869
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:153725524 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGCGGCTGCTGTTCCCCCGGGT[C/T]CTGTGCCGGGAGACGGGGCTGCTGG
Phenotype
MIM: 300371 MIM: 300398
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCD1 PubMed Links

Gene Details

Gene
ABCD1
Gene Name
ATP binding cassette subfamily D member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000033.3 657 Silent Mutation GTC,GTT V86V NP_000024.2
Gene
BCAP31
Gene Name
B-cell receptor-associated protein 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139441.1 657 Intron NP_001132913.1
NM_001139457.2 657 Intron NP_001132929.1
NM_001256447.1 657 Intron NP_001243376.1
NM_005745.7 657 Intron NP_005736.3

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