Product Details

SNP ID
rs199692693
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:21706815 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGAGCTCCATCAGCCGCATCCTG[C/T]GCAACAAGATCGGCAGCCTGGCGCA
Phenotype
MIM: 167411
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LOC101929608 PubMed Links

Gene Details

Gene
LOC101929608
Gene Name
uncharacterized LOC101929608
There are no transcripts associated with this gene.

Gene
PAX1
Gene Name
paired box 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257096.1 718 Missense Mutation CGC,TGC R222C NP_001244025.1
NM_006192.4 718 Missense Mutation CGC,TGC R222C NP_006183.2

View Full Product Details