Product Details

SNP ID
rs113943818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:9032348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGACTTAAACACTTTACCCCGTGT[A/G]TTCATCTGTTTCAGCAAAAGGTTCT
Phenotype
MIM: 300478
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAM9B PubMed Links

Gene Details

Gene
FAM9B
Gene Name
family with sequence similarity 9 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_205849.3 439 Missense Mutation CAC,TAC H48Y NP_995321.1
XM_011545464.2 439 Missense Mutation CAC,TAC H48Y XP_011543766.1
XM_011545465.2 439 Missense Mutation CAC,TAC H93Y XP_011543767.1

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