Product Details

SNP ID

rs139399585

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:155136372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCTGCCCTTTCTCACCACGGAA[C/G]TCAAGTGAGGGGCCGACGGCTGCGG

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

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	254	Missense Mutation	ACT,AGT	T38S	NP_001116309.1
NM_001122839.1	254	Missense Mutation	CTC,GTC	L52V	NP_001116311.1
NM_001287586.1	254	Intron			NP_001274515.1
NM_001287587.1	254	Missense Mutation	ACT,AGT	T38S	NP_001274516.1
NM_001287588.1	254	Missense Mutation	ACT,AGT	T38S	NP_001274517.1
NM_001287589.1	254	Missense Mutation	ACT,AGT	T38S	NP_001274518.1
NM_001287590.1	254	Missense Mutation	ACT,AGT	T28S	NP_001274519.1
NM_001287591.1	254	Missense Mutation	CTC,GTC	L20V	NP_001274520.1
NM_001287592.1	254	Missense Mutation	ACT,AGT	T29S	NP_001274521.1
NM_018845.3	254	Missense Mutation	CTC,GTC	L52V	NP_061333.2
XM_005245339.4	254	Missense Mutation	ACT,AGT	T29S	XP_005245396.1
XM_005245340.3	254	Missense Mutation	ACT,AGT	T28S	XP_005245397.1
XM_005245341.4	254	Missense Mutation	CTC,GTC	L20V	XP_005245398.1
XM_005245342.3	254	Missense Mutation	CTC,GTC	L20V	XP_005245399.1
XM_006711453.2	254	Missense Mutation	CTC,GTC	L52V	XP_006711516.1

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