Product Details

SNP ID

rs149006752

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:72003982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGGAGAACGGCGGGTTCCACTGC[A/G]AGTGTTGGGGGAAGCCTTGGACAGG

Phenotype

MIM: 604113 MIM: 164009

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IL18BP PubMed Links

Gene Details

Gene

IL18BP

Gene Name

interleukin 18 binding protein

There are no transcripts associated with this gene.

Gene

NUMA1

Gene Name

nuclear mitotic apparatus protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286561.1	6446	Missense Mutation	CGC,TGC	R2067C	NP_001273490.1
NM_006185.3	6446	Missense Mutation	CGC,TGC	R2081C	NP_006176.2
XM_006718564.1	6446	Missense Mutation	CGC,TGC	R2081C	XP_006718627.1
XM_011545054.1	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543356.1
XM_011545055.1	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543357.1
XM_011545056.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543358.1
XM_011545057.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543359.1
XM_011545058.1	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543360.1
XM_011545059.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543361.1
XM_011545060.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543362.1
XM_011545061.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543363.1
XM_011545062.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543364.1
XM_011545063.2	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543365.1
XM_011545064.1	6446	Missense Mutation	CGC,TGC	R2099C	XP_011543366.1
XM_011545065.1	6446	Missense Mutation	CGC,TGC	R2085C	XP_011543367.1
XM_011545066.1	6446	Missense Mutation	CGC,TGC	R2067C	XP_011543368.1
XM_017017830.1	6446	Missense Mutation	CGC,TGC	R2067C	XP_016873319.1
XM_017017831.1	6446	Missense Mutation	CGC,TGC	R2067C	XP_016873320.1

Gene

RNF121

Gene Name

ring finger protein 121

There are no transcripts associated with this gene.

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