Product Details

SNP ID: rs7008687
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:109364632 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GAGCAACAAGGCTGACTATAAGAGG[A/G]GAAGGTATCGTTGCTTTTTTTTTTT
Phenotype: MIM: 607843
Polymorphism: A/G, 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	263	Silent Mutation	GGA,GGG	G53G	NP_803875.2
XM_011517371.2	263	Silent Mutation	GGA,GGG	G53G	XP_011515673.1
XM_017013969.1	263	Silent Mutation	GGA,GGG	G53G	XP_016869458.1
XM_017013970.1	263	Silent Mutation	GGA,GGG	G53G	XP_016869459.1
XM_017013971.1	263	Silent Mutation	GGA,GGG	G53G	XP_016869460.1
XM_017013972.1	263	Silent Mutation	GGA,GGG	G53G	XP_016869461.1
XM_017013973.1	263	Intron			XP_016869462.1
XM_017013974.1	263	Intron			XP_016869463.1