SAMN48051407
External Id
Nanjing Normal University
INSDC center name
2025-04-18T00:00:00Z
INSDC first public
2025-04-18T08:06:04.236Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
60
age
Department of Oncology, Jinnah Postgraduate Medical Center, Karachi-75510, Pakistan
biomaterial_provider
White blood cells
cell_type
2014-06-25
collection_date
A rare polymorphism of CASP 10 gene indicated by rs1052358913 is not abundantly identified. It has been characterized by the replacement of C to T at position 201,209,415 (Proline to Proline). But in this DNA sample we had identified two changes at position 201,209,415 and 201,209,416 CCC > CAA (codon 423) in heterozygous state (Proline to Glutamine). >Seq1 [Organism=Homo sapiens] Homo sapiens exon 9 of CASP 10 gene on chromosome 2 genomic sequence TGATACTAAACTCTTTTTCATCCAGGCCTGCCAAGGTGAAGAGATACAGCCTTCCGTATCCATCGAAGCAGATGCTCTGAACCCTGAGCAGGCACAAACTTAA
description
Breast Cancer
disease
Stage II
disease_stage
Baloch, Pakistani
ethnicity
Pakistan
geo_loc_name
Ductal Carcinoma Insitu
health_state
Zainab Sher
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Breast Cancer Patients
population
DNA from blood
sample_type
female
sex
Blood
tissue
Novel CASP10 mutation at rs1052358913
title