Product Details

SNP ID
rs113424553
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:155136377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCTTTCTCACCACGGAAGTCAA[C/G]TGAGGGGCCGACGGCTGCGGTAGTG
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_001122837.1 425 Intron NP_001116309.1
NM_001122839.1 425 Intron NP_001116311.1
NM_001287586.1 425 Intron NP_001274515.1
NM_001287587.1 425 Missense Mutation CTG,GTG L40V NP_001274516.1
NM_001287588.1 425 Intron NP_001274517.1
NM_001287589.1 425 Intron NP_001274518.1
NM_001287590.1 425 Intron NP_001274519.1
NM_001287591.1 425 Intron NP_001274520.1
NM_001287592.1 425 Intron NP_001274521.1
NM_018845.3 425 Intron NP_061333.2
XM_005245339.4 425 Missense Mutation CTG,GTG L31V XP_005245396.1
XM_005245340.3 425 Missense Mutation CTG,GTG L30V XP_005245397.1
XM_005245341.4 425 Intron XP_005245398.1
XM_005245342.3 425 Intron XP_005245399.1
XM_006711453.2 425 Intron XP_006711516.1

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