Product Details

SNP ID

rs147339942

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:114355566 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGCTCCACTCTGGCACCATGCCA[A/G]CTCCGTGCACAGAGTGGTACTGATG

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	3941	Missense Mutation	GCT,GTT	A508V	NP_000183.2
NM_080717.2	3941	Missense Mutation	GCT,GTT	A458V	NP_542448.1
NM_181486.2	3941	Missense Mutation	GCT,GTT	A508V	NP_852259.1
XM_017019912.1	3941	Missense Mutation	GCT,GTT	A524V	XP_016875401.1

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