Product Details

SNP ID
rs1457293
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.8:109380089 on Build GRCh38
Set Membership
Validated
Context Sequence [VIC/FAM]
GGCTGCAGGTAAGGGAAATCTACAA[C/T]GGCTGATAGCAAGGGGGCATGGTGA
Phenotype
MIM: 607843
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PKHD1L1 PubMed Links

Gene Details

Gene
PKHD1L1
Gene Name
polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_177531.4 Intron NP_803875.2
XM_011517371.2 Intron XP_011515673.1
XM_017013969.1 Intron XP_016869458.1
XM_017013970.1 Intron XP_016869459.1
XM_017013971.1 Intron XP_016869460.1
XM_017013972.1 Intron XP_016869461.1
XM_017013973.1 Intron XP_016869462.1
XM_017013974.1 Intron XP_016869463.1

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