Product Details

SNP ID

rs73238262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:8942397 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTTTGCAGGCTACAAATTCAAC[C/T]AGCTGCCCTGTTACTTACTGCTACC

Phenotype

MIM: 154540 MIM: 602978

Polymorphism

C/T, Transition 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		Intron			NP_001193953.1
NM_002355.3		Intron			NP_002346.1
XM_005253376.2		Intron			XP_005253433.1

Gene

PHC1

Gene Name

polyhomeotic homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004426.2		Intron			NP_004417.2
XM_005253334.2		Intron			XP_005253391.1
XM_011520599.2		Intron			XP_011518901.1
XM_011520600.2		Intron			XP_011518902.1
XM_011520603.2		Intron			XP_011518905.1
XM_017018955.1		Intron			XP_016874444.1
XM_017018956.1		Intron			XP_016874445.1
XM_017018957.1		Intron			XP_016874446.1
XM_017018958.1		Intron			XP_016874447.1

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