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GTTAAAAAGGAATATCTCAAGCCCC[C/G]TGCCATGCTGAAAGGAGAAAAAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605573 MIM: 609182 | ||||||||||||||||||||
Literature Links: |
HSD17B3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HSD17B3 - hydroxysteroid 17-beta dehydrogenase 3 | ||||||
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There are no transcripts associated with this gene. |
SLC35D2 - solute carrier family 35 member D2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286990.1 | 998 | Missense Mutation | CGG,GGG | R,G 220 | NP_001273919.1 | |
NM_007001.2 | 998 | Missense Mutation | CGG,GGG | R,G 308 | NP_008932.2 | |
XM_005251673.1 | 998 | Missense Mutation | ACG,AGG | T,R 285 | XP_005251730.1 | |
XM_005251674.1 | 998 | Missense Mutation | ACG,AGG | T,R 280 | XP_005251731.1 | |
XM_005251675.2 | 998 | Missense Mutation | CGG,GGG | R,G 261 | XP_005251732.1 | |
XM_005251676.1 | 998 | Missense Mutation | CAC,CAG | H,Q 257 | XP_005251733.1 | |
XM_005251678.4 | 998 | Missense Mutation | CGG,GGG | R,G 190 | XP_005251735.1 | |
XM_006716939.2 | 998 | Missense Mutation | CGG,GGG | R,G 173 | XP_006717002.1 | |
XM_011518164.1 | 998 | Missense Mutation | CGG,GGG | R,G 251 | XP_011516466.1 |