Product Details

SNP ID
rs7734383
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:74642029 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTCGCCTCCCAGCTTGCTTTAAAAC[A/T]CTAGGCGCAGGAGCGATTTAAACTG
Phenotype
MIM: 605173 MIM: 606873
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
ENC1 PubMed Links
Additional Information
For this assay, SNP(s) [rs150885044] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
ENC1
Gene Name
ectodermal-neural cortex 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256574.1 Intron NP_001243503.1
NM_001256575.1 Intron NP_001243504.1
NM_001256576.1 Intron NP_001243505.1
NM_003633.3 Intron NP_003624.1
XM_011543696.2 Intron XP_011541998.1
XM_011543697.2 Intron XP_011541999.1
Gene
HEXB
Gene Name
hexosaminidase subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000521.3 Intron NP_000512.1
NM_001292004.1 Intron NP_001278933.1

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