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CAAGGCAATATTTTTAATATCTCTG[A/G]AAAACTCATTTCTAACCTGGGGTTC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607474 | |||||||||||||||||||||||
Literature Links: |
HGD PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
HGD - homogentisate 1,2-dioxygenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000187.3 | Intron | NP_000178.2 | ||||
XM_005247412.1 | Intron | XP_005247469.1 | ||||
XM_005247413.1 | Intron | XP_005247470.1 | ||||
XM_005247414.4 | Intron | XP_005247471.1 | ||||
XM_011512746.1 | Intron | XP_011511048.1 | ||||
XM_017006277.1 | Intron | XP_016861766.1 |