IthaID: 3084



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs855791 HGVS Name: NG_012856.2:g.47668T>C

Context nucleotide sequence:
ATCCCACAGGACCTGTGCAGCGAGG [A/C/T] CTATCGCTACCAGGTGACGCCACGC (Strand: -)

Protein sequence:
MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVEVLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYYSPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAERIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDCPNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRHICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNALQKVDVQLIPQDLCSEAYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQQVVT

Also known as:

Comments: SNP associated with low hepcidin levels in patients with beta-thalassaemia major (n=130).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal hepcidin level [HP:0031875]

Location

Chromosome: 22
Locus: NG_012856.2
Locus Location: 47668
Size: 1 bp
Located at: TMPRSS6
Specific Location: Exon 17

Other details

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

Sequence Viewer

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Publications / Origin

  1. Athiyarath R, George B, Abraham A, Viswabandya A, Srivastava A, Edison ES, Genetic modifiers of secondary iron overload in beta thalassemia major., Blood Cells Mol. Dis. , 54(3), 242-3, 2015 PubMed
Created on 2016-09-12 16:13:43, Last reviewed on 2016-09-12 16:35:45 (Show full history)

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