Product Details

SNP ID

rs201385605

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:72004092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCTGAAGGCCATCGACTGGCGC[C/T]GGTCAGCCTGCAAGGAAGGGCTGTC

Phenotype

MIM: 604113 MIM: 164009

Polymorphism

C/T, 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	6336	Missense Mutation	CAG,CGG	Q2030R	NP_001273490.1
NM_006185.3	6336	Missense Mutation	CAG,CGG	Q2044R	NP_006176.2
XM_006718564.1	6336	Missense Mutation	CAG,CGG	Q2044R	XP_006718627.1
XM_011545054.1	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543356.1
XM_011545055.1	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543357.1
XM_011545056.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543358.1
XM_011545057.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543359.1
XM_011545058.1	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543360.1
XM_011545059.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543361.1
XM_011545060.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543362.1
XM_011545061.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543363.1
XM_011545062.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543364.1
XM_011545063.2	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543365.1
XM_011545064.1	6336	Missense Mutation	CAG,CGG	Q2062R	XP_011543366.1
XM_011545065.1	6336	Missense Mutation	CAG,CGG	Q2048R	XP_011543367.1
XM_011545066.1	6336	Missense Mutation	CAG,CGG	Q2030R	XP_011543368.1
XM_017017830.1	6336	Missense Mutation	CAG,CGG	Q2030R	XP_016873319.1
XM_017017831.1	6336	Missense Mutation	CAG,CGG	Q2030R	XP_016873320.1

Gene

RNF121

Gene Name

ring finger protein 121

There are no transcripts associated with this gene.

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