Product Details

SNP ID
rs147676370
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:137521174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAATTTTCAGGGATCTCCTCCATG[A/G]CTGGCAGCCATTTTGAAGAAGGCTG
Phenotype
MIM: 608287
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PCDH18 PubMed Links

Gene Details

Gene
PCDH18
Gene Name
protocadherin 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300828.1 3673 Missense Mutation GCC,GTC A1087V NP_001287757.1
NM_019035.4 3673 Missense Mutation GCC,GTC A1088V NP_061908.1
XM_006714239.3 3673 Intron XP_006714302.1
XM_017008311.1 3673 UTR 3 XP_016863800.1

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