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TACATTCACAAATGAGAAGGGAGAG[C/T]ATCCTTCTGGAATCAATACTTGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603731 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CNOT8 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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CNOT8 - CCR4-NOT transcription complex subunit 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301073.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | NP_001288002.1 | |
NM_001301074.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | NP_001288003.1 | |
NM_001301075.1 | 399 | Intron | NP_001288004.1 | |||
NM_001301077.1 | 399 | UTR 5 | NP_001288006.1 | |||
NM_001301080.1 | 399 | UTR 5 | NP_001288009.1 | |||
NM_001301082.1 | 399 | Intron | NP_001288011.1 | |||
NM_001301083.1 | 399 | Intron | NP_001288012.1 | |||
NM_001301086.1 | 399 | UTR 5 | NP_001288015.1 | |||
NM_004779.5 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | NP_004770.4 | |
XM_005268527.2 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_005268584.1 | |
XM_011537706.1 | 399 | UTR 5 | XP_011536008.1 | |||
XM_011537708.2 | 399 | Intron | XP_011536010.1 | |||
XM_017010048.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865537.1 | |
XM_017010049.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865538.1 | |
XM_017010050.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865539.1 | |
XM_017010051.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865540.1 | |
XM_017010052.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865541.1 | |
XM_017010053.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865542.1 | |
XM_017010054.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865543.1 | |
XM_017010055.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865544.1 | |
XM_017010056.1 | 399 | Missense Mutation | CAT,TAT | H,Y 88 | XP_016865545.1 | |
XM_017010057.1 | 399 | UTR 5 | XP_016865546.1 | |||
XM_017010058.1 | 399 | UTR 5 | XP_016865547.1 |