Product Details

SNP ID

rs11542753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50959118 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTGCTAATCGTGGGCTGCGGTGG[A/G]CTCGGCTGTCCACTAGCGCAGTACT

Phenotype

MIM: 603503 MIM: 609277

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DPM1 PubMed Links

Gene Details

Gene

DPM1

Gene Name

dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317034.1	305	Intron			NP_001303963.1
NM_001317035.1	305	Intron			NP_001303964.1
NM_001317036.1	305	Intron			NP_001303965.1
NM_003859.2	305	Intron			NP_003850.1
XM_011529093.2	305	Intron			XP_011527395.1

Gene

MOCS3

Gene Name

molybdenum cofactor synthesis 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014484.4	305	Silent Mutation	GGA,GGG	G92G	NP_055299.1

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