Product Details

SNP ID

rs144612738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:196766579 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCACAATACCTCTACCACAAGTG[C/G]AGGGAGCTCCAGGGCCTTCTGATAA

Phenotype

MIM: 604888

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GTF3C3 PubMed Links

Gene Details

Gene

GTF3C3

Gene Name

general transcription factor IIIC subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206774.1	2681	Intron			NP_001193703.1
NM_012086.4	2681	Missense Mutation	CCA,GCA	P842A	NP_036218.1
XM_005246965.4	2681	Missense Mutation	CCA,GCA	P450A	XP_005247022.1

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