Product Details
- SNP ID
-
rs145476172
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
1
- Location
-
Chr.1:113705946 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGAAAAAAAACATCCAAGTAAGAC[A/G]CAATCTTTCAAAAAAATTAATTATC
- 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 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309970.1 |
NM_001323042.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309971.1 |
NM_001323043.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309972.1 |
NM_001323044.1 |
2278 |
Missense Mutation |
CGT,TGT |
R497C |
NP_001309973.1 |
NM_001323045.1 |
2278 |
Missense Mutation |
CGT,TGT |
R497C |
NP_001309974.1 |
NM_001323046.1 |
2278 |
Missense Mutation |
CGT,TGT |
R253C |
NP_001309975.1 |
NM_001323047.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309976.1 |
NM_001323048.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309977.1 |
NM_001323049.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309978.1 |
NM_001323050.1 |
2278 |
Missense Mutation |
CGT,TGT |
R497C |
NP_001309979.1 |
NM_001323051.1 |
2278 |
Missense Mutation |
CGT,TGT |
R497C |
NP_001309980.1 |
NM_001323052.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309981.1 |
NM_001323053.1 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_001309982.1 |
NM_006608.2 |
2278 |
Missense Mutation |
CGT,TGT |
R539C |
NP_006599.2 |
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