Product Details

SNP ID
hCV89721556
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83094769 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAATGAGGACAGCAAAGAGTTGCC[A/G]TATAGTCATCACAAATAGATCCCTG
Phenotype
MIM: 607515
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLAC8 PubMed Links

Gene Details

Gene
PLAC8
Gene Name
placenta specific 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130715.1 427 Missense Mutation ACG,ATG T89M NP_001124187.1
NM_001130716.1 427 Missense Mutation ACG,ATG T89M NP_001124188.1
NM_016619.2 427 Missense Mutation ACG,ATG T89M NP_057703.1

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