Product Details

SNP ID
rs143008653
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:37983624 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGGAGTCTGGGTCCACCTTCAT[C/G]AAGTGGAGGAAGACGCTGTGGAGAG
Phenotype
MIM: 614425
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TTI1 PubMed Links

Gene Details

Gene
TTI1
Gene Name
TELO2 interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303457.1 3208 Missense Mutation TTC,TTG F1034L NP_001290386.1
NM_014657.2 3208 Missense Mutation TTC,TTG F1034L NP_055472.1
XM_011529114.1 3208 Intron XP_011527416.1
XM_017028148.1 3208 Intron XP_016883637.1

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