Product Details

SNP ID

rs146421269

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7535954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGTGCTTGGCGTGATGATCGGG[G/T]CCGGAGTGGCGGTGGTGGTCACGGC

Phenotype

MIM: 605248 MIM: 603197

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MCOLN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs188353745] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	320	Missense Mutation	GCC,TCC	A65S	NP_001159583.1
NM_001166112.1	320	Missense Mutation	GCC,TCC	A17S	NP_001159584.1
NM_001166113.1	320	Missense Mutation	GCC,TCC	A17S	NP_001159585.1
NM_001166114.1	320	Missense Mutation	GCC,TCC	A56S	NP_001159586.1
NM_006702.4	320	Missense Mutation	GCC,TCC	A17S	NP_006693.3

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