Product Details

SNP ID
rs147976539
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137030926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGCCAAAGTCATCCACATGCAC[A/G]AAGGCGTCAGCCGGCACGAAGGCCT
Phenotype
MIM: 600047 MIM: 602030 MIM: 605798
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ABCA2 PubMed Links

Gene Details

Gene
ABCA2
Gene Name
ATP binding cassette subfamily A member 2
There are no transcripts associated with this gene.

Gene
C9orf139
Gene Name
chromosome 9 open reading frame 139
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207511.2 1662 Intron NP_997394.1
XM_017014717.1 1662 Intron XP_016870206.1
Gene
FUT7
Gene Name
fucosyltransferase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004479.3 1662 Silent Mutation TTC,TTT F271F NP_004470.1
Gene
NPDC1
Gene Name
neural proliferation, differentiation and control 1
There are no transcripts associated with this gene.

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