Product Details

SNP ID

rs199729456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:102187925 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCTTCCACTGTCTGTCACAGCA[G/T]GTACGTTCCGTGTGTCCTCCGTTCC

Phenotype

MIM: 147810 MIM: 604512

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IL1R1 PubMed Links

Gene Details

Gene

IL1R1

Gene Name

interleukin 1 receptor type 1

There are no transcripts associated with this gene.

Gene

IL1RL2

Gene Name

interleukin 1 receptor like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003854.2	319	Missense Mutation	GAT,TAT	D20Y	NP_003845.2
XM_005264035.1	319	Missense Mutation	GAT,TAT	D48Y	XP_005264092.1
XM_005264036.1	319	Missense Mutation	GAT,TAT	D20Y	XP_005264093.1
XM_006712820.2	319	Silent Mutation	CAG,CAT	Q97H	XP_006712883.1
XM_006712822.2	319	Intron			XP_006712885.1
XM_011512091.1	319	Missense Mutation	GAT,TAT	D48Y	XP_011510393.1
XM_011512092.1	319	Missense Mutation	GAT,TAT	D48Y	XP_011510394.1
XM_011512093.1	319	Missense Mutation	GAT,TAT	D48Y	XP_011510395.1
XM_011512094.1	319	Missense Mutation	GAT,TAT	D20Y	XP_011510396.1
XM_011512096.1	319	Missense Mutation	GAT,TAT	D48Y	XP_011510398.1
XM_017005174.1	319	Missense Mutation	GAT,TAT	D48Y	XP_016860663.1
XM_017005175.1	319	Silent Mutation	CAG,CAT	Q97H	XP_016860664.1
XM_017005176.1	319	Silent Mutation	CAG,CAT	Q97H	XP_016860665.1
XM_017005177.1	319	UTR 5			XP_016860666.1
XM_017005178.1	319	UTR 5			XP_016860667.1
XM_017005179.1	319	UTR 5			XP_016860668.1
XM_017005180.1	319	UTR 5			XP_016860669.1

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