Product Details

SNP ID
rs114265283
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:70885876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCATTCCACCCCACAGCCCTCAG[A/G]TTTGGCAGCAGCTGGTCCCTCTCCT
Phenotype
MIM: 126090 MIM: 603729
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PCBD1 PubMed Links

Gene Details

Gene
PCBD1
Gene Name
pterin-4 alpha-carbinolamine dehydratase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000281.3 456 Silent Mutation NP_000272.1
NM_001289797.1 456 UTR 5 NP_001276726.1
NM_001323004.1 456 Silent Mutation NP_001309933.1
Gene
SGPL1
Gene Name
sphingosine-1-phosphate lyase 1
There are no transcripts associated with this gene.

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