Product Details

SNP ID
rs45483295
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7534823 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGCCCCCATAACTTCACTACTAC[A/G]TGATAGTAAATCCCCGGCAAAAACC
Phenotype
MIM: 605248 MIM: 603197
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MCOLN1 PubMed Links

Gene Details

Gene
MCOLN1
Gene Name
mucolipin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020533.2 74 Intron NP_065394.1
Gene
PNPLA6
Gene Name
patatin like phospholipase domain containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166111.1 74 UTR 5 NP_001159583.1
NM_001166112.1 74 UTR 5 NP_001159584.1
NM_001166113.1 74 UTR 5 NP_001159585.1
NM_001166114.1 74 Intron NP_001159586.1
NM_006702.4 74 UTR 5 NP_006693.3

View Full Product Details