Product Details

SNP ID
rs138648427
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:113700943 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATTCAGGAAAGTTTTATGTCCTT[A/G]GAGAACCTATACAAAGGATCAAAAA
Phenotype
MIM: 604950
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PHTF1 PubMed Links

Gene Details

Gene
PHTF1
Gene Name
putative homeodomain transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323041.1 2560 Nonsense Mutation CAA,TAA Q633* NP_001309970.1
NM_001323042.1 2560 Nonsense Mutation CAA,TAA Q633* NP_001309971.1
NM_001323043.1 2560 Nonsense Mutation CAA,TAA Q633* NP_001309972.1
NM_001323044.1 2560 Nonsense Mutation CAA,TAA Q591* NP_001309973.1
NM_001323045.1 2560 Nonsense Mutation CAA,TAA Q591* NP_001309974.1
NM_001323046.1 2560 Nonsense Mutation CAA,TAA Q347* NP_001309975.1
NM_001323047.1 2560 Intron NP_001309976.1
NM_001323048.1 2560 Intron NP_001309977.1
NM_001323049.1 2560 Intron NP_001309978.1
NM_001323050.1 2560 Intron NP_001309979.1
NM_001323051.1 2560 Intron NP_001309980.1
NM_001323052.1 2560 Intron NP_001309981.1
NM_001323053.1 2560 Intron NP_001309982.1
NM_006608.2 2560 Nonsense Mutation CAA,TAA Q633* NP_006599.2

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