Product Details

SNP ID
rs143649161
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39922628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATAAGCACGCTCATCAGGGACAC[A/G]GTGTTGAGCACAAAATGGATCTGGT
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_001320801.1 419 Silent Mutation ACC,ACT T128T NP_001307730.1
NM_001320802.1 419 Silent Mutation ACC,ACT T128T NP_001307731.1
NM_001320803.1 419 Silent Mutation ACC,ACT T128T NP_001307732.1
NM_139280.3 419 Silent Mutation ACC,ACT T128T NP_644809.1
XM_017025345.1 419 Silent Mutation ACC,ACT T146T XP_016880834.1
XM_017025346.1 419 Silent Mutation ACC,ACT T128T XP_016880835.1
XM_017025347.1 419 Silent Mutation ACC,ACT T128T XP_016880836.1
XM_017025348.1 419 Silent Mutation ACC,ACT T128T XP_016880837.1

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