Product Details

SNP ID
rs182844772
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:61457584 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCATGAGAAGGAGCTCTGGAA[G/T]AAGTTCCACGAGGCGGGCACCGAGA
Phenotype
MIM: 601719
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
TBX4 PubMed Links

Gene Details

Gene
TBX4
Gene Name
T-box 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321120.1 237 Missense Mutation AAG,AAT K78N NP_001308049.1
NM_018488.3 237 Missense Mutation AAG,AAT K78N NP_060958.2
XM_011525490.2 237 Missense Mutation AAG,AAT K141N XP_011523792.1
XM_011525491.2 237 Missense Mutation AAG,AAT K141N XP_011523793.1
XM_011525495.2 237 Missense Mutation AAG,AAT K141N XP_011523797.1

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