Product Details

SNP ID

rs145567470

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:201133101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCATTAATTTTCCTCATGAAGGA[G/T]TACATGGGCCGAGGCAAGATAAGCA

Phenotype

MIM: 603599

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CFLAR PubMed Links

Gene Details

Gene

CFLAR

Gene Name

CASP8 and FADD like apoptosis regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127183.2	762	Missense Mutation	GAG,GAT	E118D	NP_001120655.1
NM_001127184.2	762	Missense Mutation	GAG,GAT	E118D	NP_001120656.1
NM_001202515.1	762	Intron			NP_001189444.1
NM_001202516.1	762	Missense Mutation	GAG,GAT	E118D	NP_001189445.1
NM_001202517.1	762	Missense Mutation	GAG,GAT	E22D	NP_001189446.1
NM_001202518.1	762	Missense Mutation	GAG,GAT	E22D	NP_001189447.1
NM_001202519.1	762	Missense Mutation	GAG,GAT	E22D	NP_001189448.1
NM_001308042.1	762	Missense Mutation	GAG,GAT	E118D	NP_001294971.1
NM_001308043.1	762	Missense Mutation	GAG,GAT	E118D	NP_001294972.1
NM_003879.5	762	Missense Mutation	GAG,GAT	E118D	NP_003870.4
XM_017005189.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860678.1
XM_017005190.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860679.1
XM_017005191.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860680.1
XM_017005192.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860681.1
XM_017005193.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860682.1
XM_017005194.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860683.1
XM_017005195.1	762	Missense Mutation	GAG,GAT	E22D	XP_016860684.1
XM_017005196.1	762	UTR 5			XP_016860685.1
XM_017005197.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860686.1
XM_017005198.1	762	Missense Mutation	GAG,GAT	E118D	XP_016860687.1

Gene

CFLAR-AS1

Gene Name

CFLAR antisense RNA 1

There are no transcripts associated with this gene.

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