IthaID: 3695


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 131 TCT>TCC [Ser>Ser] HGVS Name: HBA1:c.396T>C

Context nucleotide sequence:
TGCACGCCTCCCTGGACAAGTTCCTGGCTTC [T/C] GTGAGCACCGTGCTGACCTCCAAATACCGTTA (Strand: +)

Also known as:

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38241
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1L. Harteveld, Cornelis2020-10-20First report.
Created on 2020-10-27 14:38:27, Last reviewed on 2021-03-11 15:53:10 (Show full history)

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