Product Details

SNP ID

rs45601340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50959852 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACTGAGCCCAGAGGAGCGTGTTT[C/G]TGTCACCGACTATAAGCGACTGCTG

Phenotype

MIM: 603503 MIM: 609277

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DPM1 PubMed Links

Gene Details

Gene

DPM1

Gene Name

dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

There are no transcripts associated with this gene.

Gene

MOCS3

Gene Name

molybdenum cofactor synthesis 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014484.4	1039	Missense Mutation	TCT,TGT	S337C	NP_055299.1

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