Product Details

SNP ID
rs199723290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:137521396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGTCCAGGGAAGGCGGTAAGAGA[C/T]GCTGGAACACACTGCTCATTTCCGA
Phenotype
MIM: 608287
Polymorphism
C/T, 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 3451 Missense Mutation CAT,CGT H1013R NP_001287757.1
NM_019035.4 3451 Missense Mutation CAT,CGT H1014R NP_061908.1
XM_006714239.3 3451 Intron XP_006714302.1
XM_017008311.1 3451 UTR 3 XP_016863800.1

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