Product Details

SNP ID
rs6489956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:114354431 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCTTTCAGTAAACACAGTTTTGTGT[C/T]GGCATTGGTGTGGGCGTGGTTTCTT
Phenotype
MIM: 601620
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TBX5 PubMed Links

Gene Details

Gene
TBX5
Gene Name
T-box 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000192.3 5076 UTR 3 NP_000183.2
NM_080717.2 5076 UTR 3 NP_542448.1
NM_181486.2 5076 UTR 3 NP_852259.1
XM_017019912.1 5076 UTR 3 XP_016875401.1

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