Product Details

SNP ID
rs17844407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141122513 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGTCTTCAAAAATACACAATCA[A/G]CCCCAATTCTCATTTTCACATTCTC
Phenotype
MIM: 606330
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCDHB4 PubMed Links

Gene Details

Gene
PCDHB4
Gene Name
protocadherin beta 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018938.3 764 Missense Mutation AAC,AGC N172S NP_061761.1

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