Product Details

SNP ID
rs182393799
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:54329379 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTGAACATACAAAGCCACAAGG[A/G]TGGTTATAACCGCGGATATAATTTG
Phenotype
MIM: 605252 MIM: 607051
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
POLI PubMed Links

Gene Details

Gene
POLI
Gene Name
DNA polymerase iota
There are no transcripts associated with this gene.

Gene
STARD6
Gene Name
StAR related lipid transfer domain containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139171.1 599 Silent Mutation CAC,CAT H149H NP_631910.1
XM_011525821.1 599 Silent Mutation CAC,CAT H149H XP_011524123.1
XM_017025552.1 599 Silent Mutation CAC,CAT H90H XP_016881041.1
XM_017025553.1 599 Silent Mutation CAC,CAT H90H XP_016881042.1
XM_017025554.1 599 Silent Mutation CAC,CAT H67H XP_016881043.1

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