Product Details

SNP ID
rs200475511
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38149883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATACTGAAGGAGTAGAGTGGGATT[C/T]GCAGCAACAGCCTGTGGCAGACAAA
Phenotype
MIM: 300187
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SRPX PubMed Links

Gene Details

Gene
SRPX
Gene Name
sushi repeat containing protein, X-linked
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170750.1 1355 Missense Mutation CAA,CGA Q388R NP_001164221.1
NM_001170751.1 1355 Missense Mutation CAA,CGA Q349R NP_001164222.1
NM_001170752.1 1355 Silent Mutation GCA,GCG A367A NP_001164223.1
NM_006307.4 1355 Missense Mutation CAA,CGA Q408R NP_006298.1
XM_017029893.1 1355 Intron XP_016885382.1

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