IthaID: 2058


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: CD 122 TTT>TTC [Phe>Phe] HGVS Name: NG_000007.3:g.71943C>T

Context nucleotide sequence:
TGGCCCATCACTTTGGCAAAGAATT [A/C/G/T] ACCCCACCAGTGCAGGCTGCCTATC (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71943
Size: 1 bp
Located at: β
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: Quantitative trait
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To the best of our knowledge, this is unpublished data.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 2013-06-27 13:13:00, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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