Product Details

SNP ID

rs200973012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:125454155 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTTGTCAGTTCCTGAGGAGCCA[A/C]AGGTCTGGCGGATGCCACTCTGCAG

Phenotype

MIM: 604825

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FEZ1 PubMed Links

Gene Details

Gene

FEZ1

Gene Name

fasciculation and elongation protein zeta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005103.4	1275	Missense Mutation	TGT,TTT	C332F	NP_005094.1
NM_022549.3	1275	Intron			NP_072043.1
XM_005271734.2	1275	Missense Mutation	TGT,TTT	C332F	XP_005271791.1
XM_005271735.2	1275	Missense Mutation	TGT,TTT	C332F	XP_005271792.1

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