Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTTCCTCTTCCTCATCATCATTTT[A/G]ATTTTCTGTAAACAAATTCAGAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 613997 | ||||||||||||||||||||
Literature Links: |
NBPF7 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NBPF7 - neuroblastoma breakpoint family member 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001047980.2 | 1189 | Nonsense Mutation | CAA,TAA | Q,* 282 | NP_001041445.1 | |
XM_017001186.1 | 1189 | Intron | XP_016856675.1 |