Product Details

SNP ID
rs143214880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141854397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAAACTCACTGCACTCCCGGGTA[C/T]ATGTGCCTGTCATGGCGACATCAGG
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 5837 Intron NP_001265542.1
NM_001278615.1 5837 Intron NP_001265544.1
NM_002587.4 5837 Intron NP_002578.2
NM_032420.3 5837 Missense Mutation TAT,TGT Y1120C NP_115796.2
XM_005268452.2 5837 Missense Mutation TAT,TGT Y1164C XP_005268509.1
XM_005268454.4 5837 UTR 3 XP_005268511.1
XM_005268455.2 5837 Missense Mutation TAT,TGT Y741C XP_005268512.1
XM_017009517.1 5837 Missense Mutation TAT,TGT Y741C XP_016865006.1
XM_017009518.1 5837 Intron XP_016865007.1

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