Product Details

SNP ID

rs200350630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:8943415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGCATACTCACGTGACAAGTA[A/C]GATGGAACCCACACTGAGGTGGGAG

Phenotype

MIM: 154540 MIM: 602978

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

M6PR PubMed Links

Gene Details

Gene

M6PR

Gene Name

mannose-6-phosphate receptor, cation dependent

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207024.1	849	Intron			NP_001193953.1
NM_002355.3	849	Missense Mutation	GTA,TTA	V192L	NP_002346.1
XM_005253376.2	849	Missense Mutation	GTA,TTA	V192L	XP_005253433.1

Gene

PHC1

Gene Name

polyhomeotic homolog 1

There are no transcripts associated with this gene.

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