Product Details

SNP ID
rs201625237
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:150928198 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATATCATGACAAGACAGCCACAG[A/G]AGCCTGCAACAGAAGAAACAAGGTG
Phenotype
MIM: 606397
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLRN1 PubMed Links

Gene Details

Gene
CLRN1
Gene Name
clarin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195794.1 601 Missense Mutation TCC,TTC S159F NP_001182723.1
NM_001256819.1 601 UTR 3 NP_001243748.1
NM_052995.2 601 Missense Mutation TCC,TTC S70F NP_443721.1
NM_174878.2 601 Missense Mutation TCC,TTC S146F NP_777367.1

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