10 - Intro to technologies Flashcards
1
Q
Polymorphism
A
More than one allele occupying a specific locus found at frequency of 1% or higher in population.
2
Q
SNP
A
Single Nucleotide Polymorphism. A single nucleotide change. Most common form of genetic variation
3
Q
Allele
A
One of the variable forms of a gene
4
Q
c
A
Coding DNA sequence
5
Q
g
A
Genomic sequence
6
Q
m
A
mitochondrial sequence
7
Q
n
A
non coding RNA reference sequence
8
Q
r
A
RNA sequence
9
Q
p
A
protein sequence
10
Q
how is substitution written
A
c.51 (base position) T (original base) > C (substituted base)
11
Q
how is deletion written
A
c.197_199delAG (deleted base)
12
Q
how is insertion written
A
c.2552_2553insTT (inserted bases)
13
Q
how is protein sequence written
A
p.(Val197Arg) - Original AA, AA position, Substituted AA)
