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Results for the Protein: Q9UHF0
18203501

TKNK_HUMAN RecName: Full=Tachykinin-3; AltName: Full=ZNEUROK1; Contains: RecName: Full=Neurokinin-B; Short=NKB; AltName: Full=Neuromedin-K; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (HH10)
  HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
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Swiss-Prot Protein: Q9UHF0
Identical to: NP_037383
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069969Diseasep.ARG80SERHypogonadotropic hypogonadism 10 with or without anosmia (HH10)
Swiss-ProtVAR_069176Diseasep.MET90THRHypogonadotropic hypogonadism 10 with or without anosmia (HH10)
dbSNPrs73334764 Polymorphismp.SER99PRON/A
OMIM162330.0001 Diseasep.MET90THRHYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA



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