Product Details

SNP ID
rs143532693
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:230979169 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAACGTGGATGGGGTGGCAGCG[A/T]CTCCTACTGCTGCCTCGGCCTCCTG
Phenotype
MIM: 611647
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ARV1 PubMed Links

Gene Details

Gene
ARV1
Gene Name
ARV1 homolog, fatty acid homeostasis modulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022786.1 93 Missense Mutation ACT,TCT T22S NP_073623.1
XM_017002106.1 93 Missense Mutation ACT,TCT T22S XP_016857595.1
Gene
TTC13
Gene Name
tetratricopeptide repeat domain 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122835.2 93 Intron NP_001116307.2
NM_024525.4 93 Intron NP_078801.3
XM_005273260.1 93 Intron XP_005273317.1
XM_005273261.2 93 Intron XP_005273318.1
XM_005273262.1 93 Intron XP_005273319.1
XM_005273264.2 93 Intron XP_005273321.1
XM_006711814.2 93 Intron XP_006711877.1
XM_006711815.2 93 Intron XP_006711878.1
XM_011544275.2 93 Intron XP_011542577.1
XM_011544276.2 93 Intron XP_011542578.1
XM_017002321.1 93 Intron XP_016857810.1
XM_017002322.1 93 Intron XP_016857811.1
XM_017002323.1 93 Intron XP_016857812.1
XM_017002324.1 93 Intron XP_016857813.1
XM_017002325.1 93 Intron XP_016857814.1
XM_017002326.1 93 Intron XP_016857815.1

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