Product Details

SNP ID

rs202179787

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:168281172 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCAATGTGGTGGAGAGTGAGCTT[C/T]AGGCAGGGAGGGAAAAAGGCGACCC

Phenotype

MIM: 604614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TBX19 PubMed Links

Gene Details

Gene

TBX19

Gene Name

T-box 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005149.2	133	Nonsense Mutation	CAG,TAG	Q28*	NP_005140.1

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