Product Details

SNP ID
rs146208639
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:156213085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAAGGCATGAGGGGTCGTCTTCG[G/T]AATCTGTGCCACCCGGCACTACCAT
Phenotype
MIM: 609176 MIM: 610824
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
PMF1 PubMed Links

Gene Details

Gene
PMF1
Gene Name
polyamine-modulated factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199653.1 98 Nonsense Mutation GAA,TAA E24* NP_001186582.1
NM_001199654.1 98 Nonsense Mutation GAA,TAA E24* NP_001186583.1
NM_007221.3 98 Nonsense Mutation GAA,TAA E24* NP_009152.2
Gene
PMF1-BGLAP
Gene Name
PMF1-BGLAP readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199661.1 98 Nonsense Mutation GAA,TAA E24* NP_001186590.1
NM_001199662.1 98 Nonsense Mutation GAA,TAA E24* NP_001186591.1
NM_001199663.1 98 Nonsense Mutation GAA,TAA E24* NP_001186592.1
NM_001199664.1 98 Nonsense Mutation GAA,TAA E24* NP_001186593.1
Gene
SLC25A44
Gene Name
solute carrier family 25 member 44
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286184.1 98 Intron NP_001273113.1
NM_014655.3 98 Intron NP_055470.1
XM_006711657.3 98 Intron XP_006711720.1
XM_011510180.1 98 Intron XP_011508482.1
XM_011510181.1 98 Intron XP_011508483.1
XM_017002904.1 98 Intron XP_016858393.1
XM_017002905.1 98 Intron XP_016858394.1
XM_017002906.1 98 Intron XP_016858395.1
XM_017002907.1 98 Intron XP_016858396.1
XM_017002908.1 98 Intron XP_016858397.1

View Full Product Details