Product Details

SNP ID

rs141909514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:80267134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCATCGGTTTCCATCTGCAGATC[C/T]ACCCGGATGGCAAAGTCAATGGATC

Phenotype

MIM: 165190

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FGF5 PubMed Links

Gene Details

Gene

FGF5

Gene Name

fibroblast growth factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291812.1	547	Intron			NP_001278741.1
NM_004464.3	547	Missense Mutation	CAC,TAC	H104Y	NP_004455.2
NM_033143.2	547	Missense Mutation	CAC,TAC	H104Y	NP_149134.1

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