Product Details

SNP ID

rs104894172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70884006 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTGGCCAGGTTTATGTCCCGTT[A/C]TGAAAGGCCGGCACACTCATGGGTG

Phenotype

MIM: 126090 MIM: 603729

Polymorphism

A/C, 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	658	Nonsense Mutation	GAA,TAA	E87*	NP_000272.1
NM_001289797.1	658	Nonsense Mutation	GAA,TAA	E38*	NP_001276726.1
NM_001323004.1	658	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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