Product Details

SNP ID

rs146875946

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155131383 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCATACATGTGCAGCTGAATGACT[A/G]CGTGGACATCATCTGTCCGCACTAT

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	242	Missense Mutation	TAC,TGC	Y46C	NP_004419.2
NM_182685.1	242	Missense Mutation	TAC,TGC	Y46C	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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