Product Details

SNP ID
rs145414165
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154013049 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCCGTCTCCCCAGCTACCTTCCA[C/T]GGCTGTGGGCCGGGATCCTGGGCCA
Phenotype
MIM: 300283 MIM: 300005 MIM: 300929
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IRAK1 PubMed Links

Gene Details

Gene
IRAK1
Gene Name
interleukin 1 receptor associated kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025242.1 1935 Missense Mutation ATG,GTG M612V NP_001020413.1
NM_001025243.1 1935 Missense Mutation ATG,GTG M563V NP_001020414.1
NM_001569.3 1935 Missense Mutation ATG,GTG M642V NP_001560.2
XM_005274668.3 1935 Missense Mutation ATG,GTG M638V XP_005274725.1
XM_011531158.2 1935 Missense Mutation ATG,GTG M533V XP_011529460.1
Gene
MECP2
Gene Name
methyl-CpG binding protein 2
There are no transcripts associated with this gene.

Gene
MIR718
Gene Name
microRNA 718
There are no transcripts associated with this gene.

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