Product Details

SNP ID

rs116978549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:70055524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGCATCATTCACATCGAGAATT[G/T]CCATTTTATGGGGACTATGGATCAA

Phenotype

MIM: 142701

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HTN1 PubMed Links

Gene Details

Gene

HTN1

Gene Name

histatin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002159.3	223	Missense Mutation	TTG,TTT	L43F	NP_002150.1

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