Product Details

SNP ID
rs201492129
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28957459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCCTGGTCACAGATATATTGCA[C/T]GGTGGCCCCCACGGGAAACTTGGGG
Phenotype
MIM: 616666
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PHF12 PubMed Links

Gene Details

Gene
PHF12
Gene Name
PHD finger protein 12
There are no transcripts associated with this gene.

Gene
SEZ6
Gene Name
seizure related 6 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098635.1 2577 Missense Mutation ATG,GTG M795V NP_001092105.1
NM_001290202.1 2577 Missense Mutation ATG,GTG M670V NP_001277131.1
NM_178860.4 2577 Missense Mutation ATG,GTG M795V NP_849191.3
XM_011524315.1 2577 Missense Mutation ATG,GTG M795V XP_011522617.1
XM_011524317.2 2577 Missense Mutation ATG,GTG M795V XP_011522619.1

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