Product Details

SNP ID
rs139776757
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19763274 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCACCTTCCAAGTGAAGCTCTT[C/T]GGCATGGATCCCATGGCCGACTATA
Phenotype
MIM: 602054
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TBX1 PubMed Links

Gene Details

Gene
TBX1
Gene Name
T-box 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005992.1 708 Silent Mutation TTC,TTT F148F NP_005983.1
NM_080646.1 708 Silent Mutation TTC,TTT F148F NP_542377.1
NM_080647.1 708 Silent Mutation TTC,TTT F148F NP_542378.1
XM_006724312.2 708 Silent Mutation TTC,TTT F148F XP_006724375.1
XM_017028925.1 708 Silent Mutation TTC,TTT F198F XP_016884414.1
XM_017028926.1 708 Silent Mutation TTC,TTT F148F XP_016884415.1
XM_017028927.1 708 Intron XP_016884416.1
XM_017028928.1 708 Silent Mutation TTC,TTT F198F XP_016884417.1

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