Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACTCGCAACTCACACAGGTCATCA[A/G]CGAGCTTCGGAACACCTCCTACCGG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608833 MIM: 608362 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
RTEL1 PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
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Global
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Caucasian
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba) - Not Available | |||||||||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||||||||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||||||||
EUR
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AMR
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RTEL1 - regulator of telomere elongation helicase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001283009.1 | 1198 | Missense Mutation | AAC,AGC | N,S 124 | NP_001269938.1 | |
NM_001283010.1 | 1198 | UTR 5 | NP_001269939.1 | |||
NM_016434.3 | 1198 | Missense Mutation | AAC,AGC | N,S 124 | NP_057518.1 | |
NM_032957.4 | 1198 | Missense Mutation | AAC,AGC | N,S 124 | NP_116575.3 |
RTEL1-TNFRSF6B - RTEL1-TNFRSF6B readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
STMN3 - stathmin 3 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap Validated |