Product Details

SNP ID
rs144243061
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:152409847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCTGCTCCACTCCTGCCTTCCT[A/G]ACTCAGTGCTTGCCCCAGTCTGGGC
Phenotype
MIM: 611312
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CRNN PubMed Links

Gene Details

Gene
CRNN
Gene Name
cornulin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016190.2 1309 Missense Mutation TCA,TTA S412L NP_057274.1

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