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SNP ID

rs201887624

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:27462424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCATCATACCCTTGCATACAGGA[A/G]GGTTCAGGTGGCCATCCACGACACG

Phenotype

MIM: 603246

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTF3C1 PubMed Links

Gene Details

Gene

GTF3C1

Gene Name

general transcription factor IIIC subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286242.1	5834	Missense Mutation	CCT,CTT	P1971L	NP_001273171.1
NM_001520.3	5834	Missense Mutation	CCT,CTT	P1996L	NP_001511.2
XM_017023188.1	5834	Missense Mutation	CCT,CTT	P1933L	XP_016878677.1

Gene

IL21R-AS1

Gene Name

IL21R antisense RNA 1

There are no transcripts associated with this gene.

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