Product Details

SNP ID
rs201390120
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28957485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGCCCCCACGGGAAACTTGGGG[C/G]TGGATATGAGGCGTCGGCTGTGCTC
Phenotype
MIM: 616666
Polymorphism
C/G, Transversion 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 2551 Missense Mutation ACC,AGC T786S NP_001092105.1
NM_001290202.1 2551 Missense Mutation ACC,AGC T661S NP_001277131.1
NM_178860.4 2551 Missense Mutation ACC,AGC T786S NP_849191.3
XM_011524315.1 2551 Missense Mutation ACC,AGC T786S XP_011522617.1
XM_011524317.2 2551 Missense Mutation ACC,AGC T786S XP_011522619.1

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