Product Details

SNP ID
rs150984603
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76471951 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGGAAGAGCACGATGGCCGAGAG[G/T]TTGAGGAAGGCCTTCCAGGGCCTCT
Phenotype
MIM: 600950 MIM: 614404
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
AANAT PubMed Links

Gene Details

Gene
AANAT
Gene Name
aralkylamine N-acetyltransferase
There are no transcripts associated with this gene.

Gene
RHBDF2
Gene Name
rhomboid 5 homolog 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005498.3 2908 Missense Mutation AAA,AAC K722N NP_001005498.2
NM_024599.5 2908 Missense Mutation AAA,AAC K751N NP_078875.4
XM_005257669.3 2908 Missense Mutation AAA,AAC K751N XP_005257726.1
XM_005257670.1 2908 Missense Mutation AAA,AAC K722N XP_005257727.1
XM_011525249.2 2908 Missense Mutation AAA,AAC K722N XP_011523551.1
XM_011525250.2 2908 Missense Mutation AAA,AAC K722N XP_011523552.1
XM_011525251.2 2908 Missense Mutation AAA,AAC K722N XP_011523553.1
XM_017025079.1 2908 Missense Mutation AAA,AAC K722N XP_016880568.1

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