Product Details

SNP ID

rs78990356

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:196766677 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAATTGTAGAATGATTCCTGGCAG[A/G]GCCCACGTAAACTGAGGTATCGATT

Phenotype

MIM: 604888

Polymorphism

A/G, Transition 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	2583	Intron			NP_001193703.1
NM_012086.4	2583	Missense Mutation			NP_036218.1
XM_005246965.4	2583	Missense Mutation			XP_005247022.1

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