Product Details

SNP ID
rs201348032
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:117283292 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTACACAGACTCGGATGGGCCAAA[A/T]AAGTCATCTGATATGCTGCTGAATG
Phenotype
MIM: 614235 MIM: 193001
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
PDZD8 PubMed Links

Gene Details

Gene
PDZD8
Gene Name
PDZ domain containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173791.4 3531 Missense Mutation TTA,TTT L1147F NP_776152.1
XM_005269518.3 3531 Missense Mutation TTA,TTT L1106F XP_005269575.1
XM_011539265.1 3531 Intron XP_011537567.1
XM_011539266.2 3531 Intron XP_011537568.1
Gene
SLC18A2
Gene Name
solute carrier family 18 member A2
There are no transcripts associated with this gene.

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