Product Details

SNP ID

rs111923340

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:155138255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAAGTACCCCCAGGAGCAAGAC[A/T]GGAACTACTGGCTCCTGCAAACCTG

Phenotype

MIM: 605951 MIM: 191164 MIM: 613683

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DPM3 PubMed Links

Gene Details

Gene

DPM3

Gene Name

dolichyl-phosphate mannosyltransferase subunit 3

There are no transcripts associated with this gene.

Gene

EFNA1

Gene Name

ephrin A1

There are no transcripts associated with this gene.

Gene

SLC50A1

Gene Name

solute carrier family 50 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122837.1	643	Missense Mutation	AGG,TGG	R159W	NP_001116309.1
NM_001122839.1	643	Missense Mutation	AGG,TGG	R160W	NP_001116311.1
NM_001287586.1	643	Missense Mutation	AGG,TGG	R168W	NP_001274515.1
NM_001287587.1	643	Missense Mutation	AGG,TGG	R207W	NP_001274516.1
NM_001287588.1	643	UTR 3			NP_001274517.1
NM_001287589.1	643	Missense Mutation	AGG,TGG	R105W	NP_001274518.1
NM_001287590.1	643	Missense Mutation	AGG,TGG	R149W	NP_001274519.1
NM_001287591.1	643	Missense Mutation	AGG,TGG	R176W	NP_001274520.1
NM_001287592.1	643	Missense Mutation	AGG,TGG	R96W	NP_001274521.1
NM_018845.3	643	Missense Mutation	AGG,TGG	R214W	NP_061333.2
XM_005245339.4	643	Missense Mutation	AGG,TGG	R198W	XP_005245396.1
XM_005245340.3	643	Missense Mutation	AGG,TGG	R197W	XP_005245397.1
XM_005245341.4	643	Missense Mutation	AGG,TGG	R182W	XP_005245398.1
XM_005245342.3	643	Missense Mutation	AGG,TGG	R182W	XP_005245399.1
XM_006711453.2	643	UTR 3			XP_006711516.1

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