Product Details

SNP ID
hCV90276030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:74060281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCAAAATGATGGAATTACAGGCG[C/T]GAGCCACCGCGCCTGGCTGGAACAT
Phenotype
MIM: 603178
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALDH6A1 PubMed Links

Gene Details

Gene
ALDH6A1
Gene Name
aldehyde dehydrogenase 6 family member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278593.1 2068 UTR 3 NP_001265522.1
NM_001278594.1 2068 UTR 3 NP_001265523.1
NM_005589.3 2068 UTR 3 NP_005580.1
Gene
BBOF1
Gene Name
basal body orientation factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025057.2 2068 Intron NP_079333.2

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