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Search Thermo Fisher Scientific
CTGGTAGCCAGTGGCCAGTGTTCGC[C/T]GTGGGATCACCTTCTGGCCCTCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616162 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
KHNYN 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)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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KHNYN - KH and NYN domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290256.1 | 801 | UTR 3 | NP_001277185.1 | |||
NM_001290257.1 | 801 | UTR 3 | NP_001277186.1 | |||
NM_015299.2 | 801 | UTR 3 | NP_056114.1 | |||
XM_005267474.4 | 801 | UTR 3 | XP_005267531.1 | |||
XM_011536590.2 | 801 | UTR 3 | XP_011534892.1 | |||
XM_017021114.1 | 801 | Intron | XP_016876603.1 |
LOC101927045 - uncharacterized LOC101927045 | ||||||
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There are no transcripts associated with this gene. |
SDR39U1 - short chain dehydrogenase/reductase family 39U member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290292.1 | 801 | Missense Mutation | CAG,CGG | Q,R 188 | NP_001277221.1 | |
NM_001290293.2 | 801 | Missense Mutation | CAG,CGG | Q,R 162 | NP_001277222.1 | |
NM_001308075.1 | 801 | Missense Mutation | CAG,CGG | Q,R 188 | NP_001295004.1 | |
NM_020195.2 | 801 | Missense Mutation | CAG,CGG | Q,R 270 | NP_064580.2 | |
XM_011536975.1 | 801 | Missense Mutation | CAG,CGG | Q,R 293 | XP_011535277.1 | |
XM_011536976.1 | 801 | Missense Mutation | CAG,CGG | Q,R 228 | XP_011535278.1 |
Set Membership: |
HapMap Validated |