Product Details

SNP ID
rs138995263
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100914462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTACATTATGGGTGAAGAGTGAG[C/T]GCAATGGATGCAAGTACTGGAAGAA
Phenotype
MIM: 300684
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
XKRX PubMed Links

Gene Details

Gene
XKRX
Gene Name
XK related, X-linked
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_212559.2 1199 Missense Mutation CAC,CGC H409R NP_997724.2
XM_005262130.2 1199 Missense Mutation CAC,CGC H205R XP_005262187.1
XM_011530954.2 1199 Intron XP_011529256.1
XM_011530955.1 1199 Missense Mutation CAC,CGC H293R XP_011529257.1
XM_017029517.1 1199 Missense Mutation CAC,CGC H205R XP_016885006.1

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