Product Details

SNP ID
rs149723417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:68869748 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCTAAAGGTTGCACATCTTCCA[A/C]TGGCAACTTATAAACCATCAGAGAG
Phenotype
MIM: 612505
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ABCA8 PubMed Links

Gene Details

Gene
ABCA8
Gene Name
ATP binding cassette subfamily A member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288985.1 4775 Missense Mutation GTG,TTG V1555L NP_001275914.1
NM_001288986.1 4775 Missense Mutation GTG,TTG V1550L NP_001275915.1
NM_007168.3 4775 Missense Mutation GTG,TTG V1515L NP_009099.1
XM_005256938.2 4775 Missense Mutation GTG,TTG V1555L XP_005256995.1
XM_005256940.4 4775 Missense Mutation GTG,TTG V1494L XP_005256997.1
XM_011524191.2 4775 Intron XP_011522493.1
XM_011524192.2 4775 Intron XP_011522494.1

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