Product Details

SNP ID

rs12145036

Assay Type

Functionally tested

NCBI dbSNP Submissions

47

Location

Chr.1:84928465 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAACATTTAACAACCTCCCAGGACT[C/T]TGTGTGGCACAAACCAAGGTCCAAA

Phenotype

MIM: 607399

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MCOLN2 PubMed Links

Gene Details

Gene

MCOLN2

Gene Name

mucolipin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153259.3		Intron			NP_694991.2
XM_005270719.3		Intron			XP_005270776.1
XM_006710552.2		Intron			XP_006710615.1
XM_011541187.2		Intron			XP_011539489.1
XM_011541188.2		Intron			XP_011539490.1
XM_017000923.1		Intron			XP_016856412.1

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