Product Details

SNP ID
rs200878102
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:112418891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTGCTAAGTATGGTATGTCTAT[A/G]TATGTGCTTGGAATGGCAGAAGAAT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C9orf147 PubMed Links

Gene Details

Gene
C9orf147
Gene Name
chromosome 9 open reading frame 147
There are no transcripts associated with this gene.

Gene
HSDL2
Gene Name
hydroxysteroid dehydrogenase like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195822.1 1020 Missense Mutation ATA,ATG I104M NP_001182751.1
NM_032303.4 1020 Missense Mutation ATA,ATG I177M NP_115679.2
XM_011519091.2 1020 Missense Mutation ATA,ATG I177M XP_011517393.1
XM_017015203.1 1020 Missense Mutation ATA,ATG I3M XP_016870692.1
XM_017015204.1 1020 Missense Mutation ATA,ATG I3M XP_016870693.1
XM_017015205.1 1020 Missense Mutation ATA,ATG I3M XP_016870694.1

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