Product Details

SNP ID
rs140691452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:133325892 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGCCGCCTCCTTCTCCGCCTTGG[C/T]CGACGGCTTCCCGGGGGGTTCGGTG
Phenotype
MIM: 604647
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CALY PubMed Links

Gene Details

Gene
CALY
Gene Name
calcyon neuron specific vesicular protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321617.1 1891 Missense Mutation ACC,GCC T115A NP_001308546.1
NM_015722.3 1891 Missense Mutation ACC,GCC T197A NP_056537.1
XM_005252685.4 1891 Missense Mutation ACC,GCC T230A XP_005252742.2
XM_011539836.2 1891 Missense Mutation ACC,GCC T230A XP_011538138.1
XM_011539838.2 1891 Missense Mutation ACC,GCC T110A XP_011538140.1

View Full Product Details