Product Details

SNP ID

rs200144103

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:17515502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGGCAGTGTGGGCTTGGGGGCC[G/T]CCAATCCCAATTCACGAGTGAGTAT

Phenotype

MIM: 612676

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CLRN2 PubMed Links

Gene Details

Gene

CLRN2

Gene Name

clarin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079827.2	338	Missense Mutation	CGC,CTC	R79L	NP_001073296.1

Gene

QDPR

Gene Name

quinoid dihydropteridine reductase

There are no transcripts associated with this gene.

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