Product Details

SNP ID: rs142863012
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:132945627 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGAGGAGGCAGAGTGAGATGAAGTC[A/G]AACTGTGGGATATGAAAGGCATTTT
Phenotype: MIM: 604383 MIM: 605284
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: GFI1B PubMed Links

Gene Details

Gene: GFI1B
Gene Name: growth factor independent 1B transcriptional repressor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135031.1	83	Intron			NP_001128503.1
NM_004188.6	83	UTR 5			NP_004179.3
XM_006717297.3	83	Intron			XP_006717360.1
XM_011519068.2	83	Intron			XP_011517370.1
XM_011519069.2	83	Intron			XP_011517371.1
XM_011519070.2	83	Intron			XP_011517372.1
XM_017015175.1	83	Intron			XP_016870664.1
XM_017015176.1	83	Intron			XP_016870665.1

Gene: MIR548AW
Gene Name: microRNA 548aw

There are no transcripts associated with this gene.

Gene: TSC1
Gene Name: tuberous sclerosis 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000368.4	83	Intron			NP_000359.1
NM_001162426.1	83	Intron			NP_001155898.1
NM_001162427.1	83	Intron			NP_001155899.1
XM_005272211.1	83	Intron			XP_005272268.1
XM_006717271.1	83	Intron			XP_006717334.1
XM_011518979.2	83	Intron			XP_011517281.1
XM_017015096.1	83	Intron			XP_016870585.1
XM_017015097.1	83	Intron			XP_016870586.1
XM_017015098.1	83	Intron			XP_016870587.1
XM_017015099.1	83	Intron			XP_016870588.1
XM_017015100.1	83	Intron			XP_016870589.1
XM_017015101.1	83	Intron			XP_016870590.1

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