Product Details

SNP ID: rs72711570
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:105310170 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTGTGAATCTTTTGTAGCTTCTCTA[A/C]CCATTTTCCACTGGGAATTTTTTAG
Phenotype: MIM: 604902 MIM: 610423
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: BRF1 PubMed Links

Gene Details

Gene: BRF1
Gene Name: BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242786.1		Intron			NP_001229715.1
NM_001242787.1		Intron			NP_001229716.1
NM_001242788.1		Intron			NP_001229717.1
NM_001242789.1		Intron			NP_001229718.1
NM_001242790.1		Intron			NP_001229719.1
NM_001519.3		Intron			NP_001510.2
NM_145685.2		Intron			NP_663718.1
XM_005267561.3		Intron			XP_005267618.1
XM_005267563.3		Intron			XP_005267620.1
XM_006720123.2		Intron			XP_006720186.1
XM_011536672.2		Intron			XP_011534974.1
XM_011536673.1		Intron			XP_011534975.1
XM_011536674.1		Intron			XP_011534976.1

Gene: PACS2
Gene Name: phosphofurin acidic cluster sorting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100913.2		Intron			NP_001094383.2
NM_001243127.2		Intron			NP_001230056.1
NM_015197.3		Intron			NP_056012.2
XM_006720090.1		Intron			XP_006720153.1
XM_006720091.1		Intron			XP_006720154.1
XM_006720092.2		Intron			XP_006720155.1
XM_017021105.1		Intron			XP_016876594.1
XM_017021106.1		Intron			XP_016876595.1
XM_017021107.1		Intron			XP_016876596.1
XM_017021108.1		Intron			XP_016876597.1
XM_017021109.1		Intron			XP_016876598.1
XM_017021110.1		Intron			XP_016876599.1
XM_017021111.1		Intron			XP_016876600.1
XM_017021112.1		Intron			XP_016876601.1

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