Product Details

SNP ID

rs143511878

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:114354720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAGTTTTTCAAAGCAAGCTTTCC[A/G]GAAGGGAAGCTATAGGCCACGTTTT

Phenotype

MIM: 601620

Polymorphism

A/G, 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	4787	UTR 3			NP_000183.2
NM_080717.2	4787	UTR 3			NP_542448.1
NM_181486.2	4787	UTR 3			NP_852259.1
XM_017019912.1	4787	UTR 3			XP_016875401.1

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