Product Details

SNP ID

rs12983777

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7520582 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTCCTGATGCTGTTTCTGTGCTCG[G/T]CTCTGGCTTGGGCCTCAGCCCTGGC

Phenotype

MIM: 605248

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MCOLN1 PubMed Links

Gene Details

Gene

MCOLN1

Gene Name

mucolipin 1

There are no transcripts associated with this gene.

Gene

ZNF358

Gene Name

zinc finger protein 358

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018083.4	1401	Missense Mutation	GGC,GTC	G447V	NP_060553.4
XM_005272460.3	1401	Missense Mutation	GGC,GTC	G447V	XP_005272517.1
XM_011527695.1	1401	Missense Mutation	GGC,GTC	G447V	XP_011525997.1
XM_017026296.1	1401	Missense Mutation	GGC,GTC	G466V	XP_016881785.1

View Full Product Details