Product Details

SNP ID: rs193302868
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:65867061 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCGGCCGGGCGAGGACCAGCATGG[T/C]GCTGACGTTGTTGATTTGCTGCAGG
Phenotype: MIM: 601442 MIM: 604633 MIM: 606591
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: CFL1 PubMed Links

Gene Details

Gene: CFL1
Gene Name: cofilin 1

There are no transcripts associated with this gene.

Gene: EFEMP2
Gene Name: EGF containing fibulin like extracellular matrix protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016938.4	1448	Missense Mutation	ACC,GCC	T397A	NP_058634.4

Gene: MUS81
Gene Name: MUS81 structure-specific endonuclease subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025128.4	1448	Intron			NP_079404.3
XM_005274307.2	1448	Intron			XP_005274364.1
XM_011545269.1	1448	Intron			XP_011543571.1
XM_011545270.1	1448	Intron			XP_011543572.1

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