Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAATCGGCATGGACAATCAGAGCAC[C/G]CACAAAATAGGAGCTTGCGAGGAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 300180 | ||||||||||||||||||||
Literature Links: |
ARSE PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
ARSE - arylsulfatase E (chondrodysplasia punctata 1) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000047.2 | 753 | Intron | NP_000038.2 | |||
NM_001282628.1 | 753 | Intron | NP_001269557.1 | |||
NM_001282631.1 | 753 | Missense Mutation | CGT,GGT | R,G 200 | NP_001269560.1 | |
XM_005274518.2 | 753 | Intron | XP_005274575.1 | |||
XM_005274519.4 | 753 | Intron | XP_005274576.1 | |||
XM_005274521.4 | 753 | Intron | XP_005274578.1 | |||
XM_011545521.1 | 753 | Intron | XP_011543823.1 | |||
XM_017029525.1 | 753 | Intron | XP_016885014.1 | |||
XM_017029526.1 | 753 | Intron | XP_016885015.1 |