Product Details

SNP ID

rs148217100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70884016 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTTATGTCCCGTTCTGAAAGGCC[A/G]GCACACTCATGGGTGCTCAGCGTGA

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	648	Silent Mutation	GCC,GCT	A83A	NP_000272.1
NM_001289797.1	648	Silent Mutation	GCC,GCT	A34A	NP_001276726.1
NM_001323004.1	648	Intron			NP_001309933.1

Gene

SGPL1

Gene Name

sphingosine-1-phosphate lyase 1

There are no transcripts associated with this gene.

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