Product Details

SNP ID

rs12590473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:81175943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAATACAACTTTTTAAAAGCTAG[C/T]ATTAATCATTTGTAACACAGTTTAC

Phenotype

MIM: 600520

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GTF2A1 PubMed Links

Gene Details

Gene

GTF2A1

Gene Name

general transcription factor IIA subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278940.1	5912	UTR 3			NP_001265869.1
NM_015859.3	5912	UTR 3			NP_056943.1
NM_201595.2	5912	UTR 3			NP_963889.1

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