Product Details

SNP ID

rs199757051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:72000010 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGACCATGAGACACAACTGGACAC[C/G]AGGTAGGCCTTGGGGCTACGCATGG

Phenotype

MIM: 604113 MIM: 164009

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IL18BP PubMed Links

Gene Details

Gene

IL18BP

Gene Name

interleukin 18 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039659.1	630	Missense Mutation	CCA,CGA	P9R	NP_001034748.1
NM_001039660.1	630	Missense Mutation	CCA,CGA	P9R	NP_001034749.1
NM_001145055.1	630	Missense Mutation	CCA,CGA	P9R	NP_001138527.1
NM_001145057.1	630	Missense Mutation	CCA,CGA	P9R	NP_001138529.1
NM_005699.3	630	Missense Mutation	CCA,CGA	P9R	NP_005690.2
NM_173042.2	630	Missense Mutation	CCA,CGA	P9R	NP_766630.2
NM_173044.2	630	Missense Mutation	CCA,CGA	P9R	NP_766632.2
XM_017017059.1	630	Missense Mutation	CCA,CGA	P9R	XP_016872548.1
XM_017017060.1	630	Missense Mutation	CCA,CGA	P9R	XP_016872549.1
XM_017017061.1	630	Missense Mutation	CCA,CGA	P9R	XP_016872550.1
XM_017017062.1	630	Missense Mutation	CCA,CGA	P9R	XP_016872551.1
XM_017017063.1	630	Missense Mutation	CCA,CGA	P9R	XP_016872552.1

Gene

NUMA1

Gene Name

nuclear mitotic apparatus protein 1

There are no transcripts associated with this gene.

Gene

RNF121

Gene Name

ring finger protein 121

There are no transcripts associated with this gene.

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