Product Details

SNP ID
rs139179377
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28958058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCACTGGTAAGTGACCACGGTGC[C/T]GTGCACTAGCTCAGGCTGCGATGGG
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 2385 Missense Mutation AGC,GGC S731G NP_001092105.1
NM_001290202.1 2385 Missense Mutation AGC,GGC S606G NP_001277131.1
NM_178860.4 2385 Missense Mutation AGC,GGC S731G NP_849191.3
XM_011524315.1 2385 Missense Mutation AGC,GGC S731G XP_011522617.1
XM_011524317.2 2385 Missense Mutation AGC,GGC S731G XP_011522619.1

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