Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCTCACCGCCTGGCTACCTGACCT[A/T]GGTGTTGAGCTTCAGGTATGCCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605573 | ||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000197.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 308 | NP_000188.1 | |
XM_011518618.2 | 3354 | Nonsense Mutation | AAG,TAG | K,* 308 | XP_011516920.1 | |
XM_011518619.2 | 3354 | Nonsense Mutation | AAG,TAG | K,* 308 | XP_011516921.1 | |
XM_017014671.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 308 | XP_016870160.1 | |
XM_017014672.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 308 | XP_016870161.1 | |
XM_017014673.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 296 | XP_016870162.1 | |
XM_017014674.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 272 | XP_016870163.1 | |
XM_017014675.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 254 | XP_016870164.1 | |
XM_017014676.1 | 3354 | Intron | XP_016870165.1 | |||
XM_017014677.1 | 3354 | Nonsense Mutation | AAG,TAG | K,* 188 | XP_016870166.1 |