Product Details

SNP ID
rs138069301
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:64816740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGCAAACACACGGCCCAGAGAA[A/G]TCTCCACACAATCCAGGGTCATGCC
Phenotype
MIM: 610953
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PIF1 PubMed Links

Gene Details

Gene
PIF1
Gene Name
PIF1 5'-to-3' DNA helicase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286496.1 1743 Missense Mutation ACT,ATT T567I NP_001273425.1
NM_001286497.1 1743 Missense Mutation ACT,ATT T567I NP_001273426.1
NM_001286499.1 1743 Missense Mutation ACT,ATT T514I NP_001273428.1
NM_025049.3 1743 Missense Mutation ACT,ATT T567I NP_079325.2
XM_011522083.2 1743 Missense Mutation ACT,ATT T567I XP_011520385.1
XM_011522084.2 1743 Missense Mutation ACT,ATT T567I XP_011520386.1

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