Product Details

SNP ID

rs104894648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61456674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCGTCGCCGCCGCCGCCGCGGAG[C/T]AGGTAGGGCTGCGCCAGCCGTCGGG

Phenotype

MIM: 601719

Polymorphism

C/T, Transition 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	187	Nonsense Mutation	CAG,TAG	Q62*	NP_001308049.1
NM_018488.3	187	Nonsense Mutation	CAG,TAG	Q62*	NP_060958.2
XM_011525490.2	187	Nonsense Mutation	CAG,TAG	Q125*	XP_011523792.1
XM_011525491.2	187	Nonsense Mutation	CAG,TAG	Q125*	XP_011523793.1
XM_011525495.2	187	Nonsense Mutation	CAG,TAG	Q125*	XP_011523797.1

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