Product Details

SNP ID
rs59512152
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46334458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACAGCTGCAGCAGAAGCAAGTCA[A/G]TGACCATCCTCCAGAGCAGTGTGGG
Phenotype
MIM: 605925
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCNT PubMed Links

Gene Details

Gene
PCNT
Gene Name
pericentrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001315529.1 624 UTR 5 NP_001302458.1
NM_006031.5 624 Missense Mutation AAT,AGT N110S NP_006022.3
XM_005261124.4 624 Missense Mutation AAT,AGT N110S XP_005261181.1
XM_011529594.2 624 Missense Mutation AAT,AGT N110S XP_011527896.1
XM_017028362.1 624 Missense Mutation AAT,AGT N110S XP_016883851.1
XM_017028363.1 624 UTR 5 XP_016883852.1

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