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GCCCAGTTTCCTTCCCCATATTTCT[C/G]CACTCCAGCCTTGACCCACTCGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602027 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TERF2 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 - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | 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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TERF2 - telomeric repeat binding factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005652.4 | 1555 | Missense Mutation | CAG,GAG | Q,E 505 | NP_005643.2 | |
XM_005256121.3 | 1555 | Missense Mutation | CAG,GAG | Q,E 508 | XP_005256178.1 | |
XM_005256122.3 | 1555 | Missense Mutation | CAG,GAG | Q,E 507 | XP_005256179.1 | |
XM_005256123.3 | 1555 | Missense Mutation | CAG,GAG | Q,E 504 | XP_005256180.1 | |
XM_005256124.3 | 1555 | Missense Mutation | CAG,GAG | Q,E 427 | XP_005256181.1 |
TMED6 - transmembrane p24 trafficking protein 6 | ||||||
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There are no transcripts associated with this gene. |