Product Details

SNP ID

rs147878118

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7526792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTGCCTGACGTGTCACTGGGCC[A/G]GTATGCGTATGTCCGTGGTGGGGGT

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	578	Missense Mutation	CAG,CGG	Q146R	NP_065394.1

Gene

PNPLA6

Gene Name

patatin like phospholipase domain containing 6

There are no transcripts associated with this gene.

Gene

ZNF358

Gene Name

zinc finger protein 358

There are no transcripts associated with this gene.

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