Product Details

SNP ID

rs2630331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70882439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTAGTTGGCAAGCTGGAGAACCAG[C/G]AAAGCAGATGGTATTGTTGCACACC

Phenotype

MIM: 126090 MIM: 603729

Polymorphism

C/G, Transversion 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	516	Intron			NP_000272.1
NM_001289797.1	516	Intron			NP_001276726.1
NM_001323004.1	516	Missense Mutation	TCC,TGC	S88C	NP_001309933.1

Gene

SGPL1

Gene Name

sphingosine-1-phosphate lyase 1

There are no transcripts associated with this gene.

View Full Product Details