Product Details

SNP ID

rs144852184

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155140151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGACTTCCTGGCAGGACAAGGG[C/G]AGCTCCAGGCCCAAGGCTCCCGTGG

Phenotype

MIM: 605951 MIM: 191164 MIM: 613683

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DPM3 PubMed Links

Gene Details

Gene

DPM3

Gene Name

dolichyl-phosphate mannosyltransferase subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018973.3	125	Silent Mutation	CTC,CTG	L60L	NP_061846.2
NM_153741.1	125	Silent Mutation	CTC,CTG	L30L	NP_714963.1
XM_017001498.1	125	Silent Mutation	CTC,CTG	L30L	XP_016856987.1

Gene

EFNA1

Gene Name

ephrin A1

There are no transcripts associated with this gene.

Gene

SLC50A1

Gene Name

solute carrier family 50 member 1

There are no transcripts associated with this gene.

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