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AAAACTTCAAGTCCCATAAAATGCT[A/G]TAGGCAATCGTCTGAGGGGAAAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 185620 MIM: 185630 MIM: 185660 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SURF1 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SURF1 - surfeit 1 | ||||||
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There are no transcripts associated with this gene. |
SURF2 - surfeit 2 | ||||||
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There are no transcripts associated with this gene. |
SURF4 - surfeit 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001280788.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 93 | NP_001267717.1 | |
NM_001280789.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 108 | NP_001267718.1 | |
NM_001280790.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 65 | NP_001267719.1 | |
NM_001280791.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 65 | NP_001267720.1 | |
NM_001280792.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 108 | NP_001267721.1 | |
NM_001280793.1 | 521 | UTR 5 | NP_001267722.1 | |||
NM_033161.3 | 521 | Silent Mutation | TAC,TAT | Y,Y 108 | NP_149351.1 | |
XM_011518943.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 99 | XP_011517245.1 | |
XM_011518944.2 | 521 | Silent Mutation | TAC,TAT | Y,Y 99 | XP_011517246.1 | |
XM_011518945.2 | 521 | Nonsense Mutation | CAG,TAG | Q,* 108 | XP_011517247.1 | |
XM_017015062.1 | 521 | Silent Mutation | TAC,TAT | Y,Y 140 | XP_016870551.1 |