Product Details

SNP ID
rs138258765
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141854328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGAGGGCGCTGCTCTTGGTCCGG[C/T]GGCTGGGAGATGACTGGCCAGGCAT
Phenotype
MIM: 603626
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PCDH1 PubMed Links

Gene Details

Gene
PCDH1
Gene Name
protocadherin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278613.1 5906 Intron NP_001265542.1
NM_001278615.1 5906 Intron NP_001265544.1
NM_002587.4 5906 Intron NP_002578.2
NM_032420.3 5906 Missense Mutation CAC,CGC H1143R NP_115796.2
XM_005268452.2 5906 Missense Mutation CAC,CGC H1187R XP_005268509.1
XM_005268454.4 5906 Intron XP_005268511.1
XM_005268455.2 5906 Missense Mutation CAC,CGC H764R XP_005268512.1
XM_017009517.1 5906 Missense Mutation CAC,CGC H764R XP_016865006.1
XM_017009518.1 5906 Intron XP_016865007.1

View Full Product Details