Product Details

SNP ID

rs199691868

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27150264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGTTGGACGTGCTGGTGCTCGCC[A/G]CCAGCTACATAGCCCACCTCACCCG

Phenotype

MIM: 609635

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TCF23 PubMed Links

Gene Details

Gene

TCF23

Gene Name

transcription factor 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175769.2	421	Missense Mutation	ACC,GCC	T122A	NP_786951.1
XM_005264159.4	421	Missense Mutation	ACC,GCC	T122A	XP_005264216.1

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