Product Details

SNP ID
rs138724943
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19764209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCGGGGAAGGCCGACCCTGCCAC[A/G]CCAGGCCGCGTGCACTACCACCCGG
Phenotype
MIM: 602054
Polymorphism
A/G, 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_005992.1 831 Silent Mutation ACA,ACG T189T NP_005983.1
NM_080646.1 831 Silent Mutation ACA,ACG T189T NP_542377.1
NM_080647.1 831 Silent Mutation ACA,ACG T189T NP_542378.1
XM_006724312.2 831 Silent Mutation ACA,ACG T189T XP_006724375.1
XM_017028925.1 831 Silent Mutation ACA,ACG T239T XP_016884414.1
XM_017028926.1 831 Silent Mutation ACA,ACG T189T XP_016884415.1
XM_017028927.1 831 Intron XP_016884416.1
XM_017028928.1 831 Silent Mutation ACA,ACG T239T XP_016884417.1

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