Product Details

SNP ID
rs116444497
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:54782354 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGATGTCCAGGTACGCCTTGAAGC[C/G]TGGGCACACCCTGACCACTTCCTCA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TTC22 PubMed Links

Gene Details

Gene
TTC22
Gene Name
tetratricopeptide repeat domain 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114108.1 1249 Missense Mutation CGC,GGC R382G NP_001107580.1
NM_017904.3 1249 Intron NP_060374.2
XM_011541671.2 1249 Intron XP_011539973.1
XM_017001582.1 1249 Missense Mutation CGC,GGC R191G XP_016857071.1

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