IthaID: 2866

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs3755319	HGVS Name:	NG_002601.2:g.174193A>C

Context nucleotide sequence:
CATTTGGGGAAATTCTGATGACTGA [G/T] TTGAAGTCAAAAGGGAAAGATGAGC (Strand: -)

Also known as:

Comments: SNP associated with risk of cholelithiasis and variation in bilirubin levels in the Cooperative Study of Sickle Cell Disease (CSSCD; n=1117). The association with bilirubin levels was replicated in three independent studies, namely, the Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy (Walk-PHaSST; n=522), the Outcome Modifying Genes study (n=530) and the SITT silent cerebral infarct trial (n=905). This SNP overlaps the UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 genes within the UGT1A locus.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Gallstones [HP:0001081] [OMIM:600803] Bilirubin levels

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	2
Locus:	NG_002601.2
Locus Location:	174193
Size:	1 bp
Located at:	UGT1A10
Specific Location:	Intron 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	African American
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Milton JN, Sebastiani P, Solovieff N, Hartley SW, Bhatnagar P, Arking DE, Dworkis DA, Casella JF, Barron-Casella E, Bean CJ, Hooper WC, DeBaun MR, Garrett ME, Soldano K, Telen MJ, Ashley-Koch A, Gladwin MT, Baldwin CT, Steinberg MH, Klings ES, A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia., PLoS ONE , 7(4), e34741, 2012 PubMed

Created on 2016-05-18 16:23:41, Last reviewed on 2016-05-18 16:26:16 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-05-18 16:23:41	The IthaGenes Curation Team	Created
2	2016-05-18 16:26:16	The IthaGenes Curation Team	Reviewed.

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