Product Details

SNP ID
rs144550713
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:2946056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATACAGCCCGTGGAGACTCTTCCC[A/G]AGGAAGTTCTCCATAGTGATAAGAG
Phenotype
MIM: 300180
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ARSE PubMed Links

Gene Details

Gene
ARSE
Gene Name
arylsulfatase E (chondrodysplasia punctata 1)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000047.2 953 Intron NP_000038.2
NM_001282628.1 953 Intron NP_001269557.1
NM_001282631.1 953 Silent Mutation CTC,CTT L266L NP_001269560.1
XM_005274518.2 953 Intron XP_005274575.1
XM_005274519.4 953 Intron XP_005274576.1
XM_005274521.4 953 Intron XP_005274578.1
XM_011545521.1 953 Intron XP_011543823.1
XM_017029525.1 953 Intron XP_016885014.1
XM_017029526.1 953 Intron XP_016885015.1

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