Product Details

SNP ID
rs200735199
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39923151 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGGTCAAGAACTTCCGAGAGGCC[A/G]TGAACTGGACCCCATAATCCATCTG
Phenotype
MIM: 611221 MIM: 610075
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GSDMB PubMed Links

Gene Details

Gene
GSDMB
Gene Name
gasdermin B
There are no transcripts associated with this gene.

Gene
LRRC3C
Gene Name
leucine rich repeat containing 3C
There are no transcripts associated with this gene.

Gene
ORMDL3
Gene Name
ORMDL sphingolipid biosynthesis regulator 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320801.1 322 Missense Mutation ACG,ATG T96M NP_001307730.1
NM_001320802.1 322 Missense Mutation ACG,ATG T96M NP_001307731.1
NM_001320803.1 322 Missense Mutation ACG,ATG T96M NP_001307732.1
NM_139280.3 322 Missense Mutation ACG,ATG T96M NP_644809.1
XM_017025345.1 322 Missense Mutation ACG,ATG T114M XP_016880834.1
XM_017025346.1 322 Missense Mutation ACG,ATG T96M XP_016880835.1
XM_017025347.1 322 Missense Mutation ACG,ATG T96M XP_016880836.1
XM_017025348.1 322 Missense Mutation ACG,ATG T96M XP_016880837.1

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