Product Details

SNP ID

rs199530486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39906169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGAGGCACTTAGCGAGGGAGTTT[A/G]GCACATCTTTTCTCTTCTCCTCTGT

Phenotype

MIM: 611221

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GSDMB PubMed Links

Gene Details

Gene

GSDMB

Gene Name

gasdermin B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042471.1	2852	Missense Mutation	CCA,CTA	P264L	NP_001035936.1
NM_001165958.1	2852	Missense Mutation	CCA,CTA	P277L	NP_001159430.1
NM_001165959.1	2852	Missense Mutation	CCA,CTA	P268L	NP_001159431.1
NM_018530.2	2852	Missense Mutation	CCA,CTA	P255L	NP_061000.2
XM_011525004.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523306.1
XM_011525006.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523308.1
XM_011525007.2	2852	Missense Mutation	CCA,CTA	P281L	XP_011523309.1
XM_011525009.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523311.1
XM_011525011.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523313.1
XM_011525012.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523314.1
XM_011525013.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523315.1
XM_011525015.1	2852	Missense Mutation	CCA,CTA	P281L	XP_011523317.1
XM_017024848.1	2852	Missense Mutation	CCA,CTA	P281L	XP_016880337.1
XM_017024849.1	2852	Missense Mutation	CCA,CTA	P281L	XP_016880338.1
XM_017024850.1	2852	Missense Mutation	CCA,CTA	P277L	XP_016880339.1
XM_017024851.1	2852	Missense Mutation	CCA,CTA	P272L	XP_016880340.1
XM_017024852.1	2852	Missense Mutation	CCA,CTA	P264L	XP_016880341.1
XM_017024853.1	2852	Intron			XP_016880342.1
XM_017024854.1	2852	Intron			XP_016880343.1

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