Product Details

SNP ID
rs146089816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:23192538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACTGCGGCGGCGAGCATGGACG[C/T]GGTGTTGCTGGAGCACTTCCCCGGG
Phenotype
MIM: 607194
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTF1A PubMed Links

Gene Details

Gene
PTF1A
Gene Name
pancreas specific transcription factor, 1a
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178161.2 8 Missense Mutation GCG,GTG A3V NP_835455.1

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