Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGGGCGCCTTGGTTGCGGCCCTCCG[T/C]TGAGGAGCCATCGGACCAGGCCGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616864 | ||||||||||||||||||||
Literature Links: |
HEXDC 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 |
HEXDC - hexosaminidase D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173620.2 | 99 | UTR 5 | NP_775891.2 | |||
XM_005256346.3 | 99 | Intron | XP_005256403.1 | |||
XM_005256347.4 | 99 | Intron | XP_005256404.1 | |||
XM_006722280.3 | 99 | Intron | XP_006722343.1 | |||
XM_011523560.2 | 99 | Intron | XP_011521862.1 | |||
XM_011523561.2 | 99 | Intron | XP_011521863.1 | |||
XM_017024484.1 | 99 | Intron | XP_016879973.1 | |||
XM_017024485.1 | 99 | Intron | XP_016879974.1 |
OGFOD3 - 2-oxoglutarate and iron dependent oxygenase domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024648.2 | 99 | Silent Mutation | CAA,CAG | Q,Q 4 | NP_078924.1 | |
NM_175902.4 | 99 | Silent Mutation | CAA,CAG | Q,Q 4 | NP_787098.3 |