IthaID: 3539


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs115340990 HGVS Name: NC_000010.11:g.70151008A>G

Context nucleotide sequence:
TCTCCAATCTGTTCATAGGAGAT [A>G] TATCTTTTGATCTTTTATTATAAG (Strand: +)

Also known as:

Comments: SNP showed significant association with total haemoglobin levels after hydroxyurea treatment in SCD patients. SNP generates an miRNA-binding site within the 3'UTR of SAR1A gene (e.g., mirR-1270, miR-4784, miR-3171, miR-1206, miR-1273f, miR-620, miR-143-3p). Source: Blood (2019) 134 (Supplement_1): 987; doi.org/10.1182/blood-2019-124965.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Response to hydroxyurea

Location

Chromosome: 10
Locus: NM_001142648.2
Locus Location: N/A
Size: 1 bp
Located at: SAR1A
Specific Location: 3'UTR 0

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: N/A
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2019-12-12 14:18:20, Last reviewed on 2019-12-12 15:40:54 (Show full history)

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