Product Details

SNP ID

rs151183955

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:35245004 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTTCACCTTTTCAAAAGACACC[A/G]TCTGTTTGAGTAGTTGCTCACCGGT

Phenotype

MIM: 606061

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TBX20 PubMed Links

Gene Details

Gene

TBX20

Gene Name

T-box 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077653.2	1079	Missense Mutation	ACG,ATG	T200M	NP_001071121.1
NM_001166220.1	1079	Missense Mutation	ACG,ATG	T200M	NP_001159692.1
XM_017012456.1	1079	Missense Mutation	ACG,ATG	T1M	XP_016867945.1

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