Product Details

SNP ID

rs114286667

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7535654 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACAACTCCCGGCGTGCTCAGCG[C/G]GCATTACGTGGTCTGGCGATAACGC

Phenotype

MIM: 605248 MIM: 603197

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

MCOLN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs74956393] are located under a primer 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		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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