Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACGGACATCCCAAAGATTATTTAC[A/G]CCTCCAGGACCCACTCGCAACTCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608833 MIM: 608362 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RTEL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
RTEL1 - regulator of telomere elongation helicase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001283009.1 | 1161 | Missense Mutation | ACC,GCC | T,A 112 | NP_001269938.1 | |
NM_001283010.1 | 1161 | UTR 5 | NP_001269939.1 | |||
NM_016434.3 | 1161 | Missense Mutation | ACC,GCC | T,A 112 | NP_057518.1 | |
NM_032957.4 | 1161 | Missense Mutation | ACC,GCC | T,A 112 | NP_116575.3 |
RTEL1-TNFRSF6B - RTEL1-TNFRSF6B readthrough (NMD candidate) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
STMN3 - stathmin 3 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |