Product Details

SNP ID
rs201250702
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:155135928 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGTCGTAATGGAGGCGGGCGGCT[A/T]TCTGGACTCGCTCATTTACGGAGCA
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_001122837.1 117 UTR 5 NP_001116309.1
NM_001122839.1 117 Missense Mutation TAT,TTT Y6F NP_001116311.1
NM_001287586.1 117 UTR 5 NP_001274515.1
NM_001287587.1 117 UTR 5 NP_001274516.1
NM_001287588.1 117 UTR 5 NP_001274517.1
NM_001287589.1 117 UTR 5 NP_001274518.1
NM_001287590.1 117 Intron NP_001274519.1
NM_001287591.1 117 Intron NP_001274520.1
NM_001287592.1 117 Intron NP_001274521.1
NM_018845.3 117 Missense Mutation TAT,TTT Y6F NP_061333.2
XM_005245339.4 117 Intron XP_005245396.1
XM_005245340.3 117 Intron XP_005245397.1
XM_005245341.4 117 Intron XP_005245398.1
XM_005245342.3 117 Intron XP_005245399.1
XM_006711453.2 117 Missense Mutation TAT,TTT Y6F XP_006711516.1

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