IthaID: 2592


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs5369 HGVS Name: NG_016196.1:g.8730A>G

Context nucleotide sequence:
TTCCCACAAAGGCAACAGACCGTGA [A/G] AATAGATGCCAATGTGCTAGCCAAA (Strand: +)

Protein sequence:
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW

Also known as:

Comments: SNP associated with osteonecrosis in the Cooperative Study of Sickle Cell Disease (CSSCD) (442 cases; 455 controls).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805]

Location

Chromosome: 6
Locus: NG_016196.1
Locus Location: 8730
Size: 1 bp
Located at: EDN1
Specific Location: Exon 3

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

Publications / Origin

  1. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005
Created on 2016-05-09 15:00:39, Last reviewed on 2016-05-25 09:22:04 (Show full history)

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