Product Details

SNP ID
rs148791351
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42700349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGAAATTTATTGGCAATGAAGC[C/T]GCATGTATACCAGGCTCCCCTAGTC
Phenotype
MIM: 602346 MIM: 601674
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CNTNAP1 PubMed Links

Gene Details

Gene
CNTNAP1
Gene Name
contactin associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003632.2 4370 Intron NP_003623.1
XM_005257748.4 4370 Intron XP_005257805.1
XM_017025238.1 4370 Intron XP_016880727.1
Gene
EZH1
Gene Name
enhancer of zeste 1 polycomb repressive complex 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321079.1 4370 UTR 3 NP_001308008.1
NM_001321081.1 4370 UTR 3 NP_001308010.1
NM_001321082.1 4370 UTR 3 NP_001308011.1
NM_001991.4 4370 UTR 3 NP_001982.2
XM_005257145.2 4370 UTR 3 XP_005257202.1
XM_011524517.2 4370 UTR 3 XP_011522819.1
XM_017024350.1 4370 UTR 3 XP_016879839.1
XM_017024351.1 4370 UTR 3 XP_016879840.1
XM_017024352.1 4370 UTR 3 XP_016879841.1
Gene
MIR6780A
Gene Name
microRNA 6780a
There are no transcripts associated with this gene.

View Full Product Details