Product Details

SNP ID
rs149647680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:150928130 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATAAGTCCCTTCTTTATAATTTG[C/T]AATTTTTTCTGAGAGGTGATGGATT
Phenotype
MIM: 606397
Polymorphism
C/T, 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_001195794.1 669 Missense Mutation ACA,GCA T182A NP_001182723.1
NM_001256819.1 669 UTR 3 NP_001243748.1
NM_052995.2 669 Missense Mutation ACA,GCA T93A NP_443721.1
NM_174878.2 669 Missense Mutation ACA,GCA T169A NP_777367.1

View Full Product Details