Product Details

SNP ID

rs114708813

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:155133963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTCTCACCTTGCAGATGACCCA[A/G]AGGTGCGGGTTCTACATAGCATCGG

Phenotype

MIM: 605951 MIM: 191164 MIM: 613683

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004428.2	553	Missense Mutation	AAG,GAG	K172E	NP_004419.2
NM_182685.1	553	Missense Mutation	AAG,GAG	K150E	NP_872626.1

Gene

SLC50A1

Gene Name

solute carrier family 50 member 1

There are no transcripts associated with this gene.

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