Product Details

SNP ID
rs201339444
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:152846395 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCATTTGACAGAGGACACTCCCA[A/G]AGTGAATGCTGACATAGAAAAGGTT
Phenotype
MIM: 300275
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NSDHL PubMed Links

Gene Details

Gene
NSDHL
Gene Name
NAD(P) dependent steroid dehydrogenase-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001129765.1 197 Missense Mutation AAA,AGA K24R NP_001123237.1
NM_015922.2 197 Missense Mutation AAA,AGA K24R NP_057006.1
XM_011531178.2 197 Missense Mutation AAA,AGA K24R XP_011529480.1
XM_017029564.1 197 Missense Mutation AAA,AGA K40R XP_016885053.1

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