Product Details

SNP ID

rs604959

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7534849 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGATAGTAAATCCCCGGCAAAAACC[A/C]GCAGCGCCTTGCAAGCCCACGCCAC

Phenotype

MIM: 605248 MIM: 603197

Polymorphism

A/C, Transversion 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	100	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	100	UTR 5			NP_001159583.1
NM_001166112.1	100	UTR 5			NP_001159584.1
NM_001166113.1	100	UTR 5			NP_001159585.1
NM_001166114.1	100	Intron			NP_001159586.1
NM_006702.4	100	UTR 5			NP_006693.3

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