CRISPR-targeting generated a stop codon at 41 cysteine (TGC) to Stop (TGA), which was predicted to result in loss of function. In this targeting process, one single nucleotide (A) insertion at position 117-118 and deletion of AT/insertion of TGA at position 127-128 occurred which predicts an apartate-to-arginine substitution at codon 40, frameshift, and termination codon at position 57 (NM_001177577.1 c.[117_118insA;127_128delinsTGA]). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count