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GATTCTCTAGGGAACCGCCGTGATC[C/T]GACGTAAAATAAATGAGGGTGCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300180 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARSE 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 - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ARSE - arylsulfatase E (chondrodysplasia punctata 1) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000047.2 | 1076 | Intron | NP_000038.2 | |||
NM_001282628.1 | 1076 | Intron | NP_001269557.1 | |||
NM_001282631.1 | 1076 | Silent Mutation | TCA,TCG | S,S 307 | NP_001269560.1 | |
XM_005274518.2 | 1076 | Intron | XP_005274575.1 | |||
XM_005274519.4 | 1076 | Intron | XP_005274576.1 | |||
XM_005274521.4 | 1076 | Intron | XP_005274578.1 | |||
XM_011545521.1 | 1076 | Intron | XP_011543823.1 | |||
XM_017029525.1 | 1076 | Intron | XP_016885014.1 | |||
XM_017029526.1 | 1076 | Intron | XP_016885015.1 |