Product Details

SNP ID
rs746130
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7535122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGTGGTCAGGCTTGATCAACCC[C/T]GCAGAGGGCAGTGACCCGGGAGGAA
Phenotype
MIM: 605248 MIM: 603197
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MCOLN1 PubMed Links

Gene Details

Gene
MCOLN1
Gene Name
mucolipin 1
There are no transcripts associated with this gene.

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 Intron NP_001159583.1
NM_001166112.1 Intron NP_001159584.1
NM_001166113.1 Intron NP_001159585.1
NM_001166114.1 Intron NP_001159586.1
NM_006702.4 Intron NP_006693.3

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