Product Details

SNP ID
rs150627254
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:15511488 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTATGCATCAAATGAAGAGAGC[C/T]GAAGTCAGTGGTTGAAAGCATTACA
Phenotype
MIM: 300335 MIM: 300101
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACE2 PubMed Links

Gene Details

Gene
ACE2
Gene Name
angiotensin I converting enzyme 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021804.2 468 Intron NP_068576.1
XM_011545549.1 468 Intron XP_011543851.1
XM_011545551.2 468 Intron XP_011543853.1
XM_011545552.1 468 Intron XP_011543854.1
Gene
BMX
Gene Name
BMX non-receptor tyrosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320866.1 468 Nonsense Mutation CGA,TGA R99* NP_001307795.1
NM_001721.6 468 Nonsense Mutation CGA,TGA R99* NP_001712.1
NM_203281.2 468 Nonsense Mutation CGA,TGA R99* NP_975010.1
XM_017029752.1 468 Nonsense Mutation CGA,TGA R99* XP_016885241.1

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