Product Details

SNP ID
rs34745784
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:230979199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTGCTGCCTCGGCCTCCTGCCAG[C/T]ACAGGTGCATCGAATGCAACCAGGA
Phenotype
MIM: 611647
Polymorphism
C/T, Transition 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_022786.1 123 Missense Mutation CAC,TAC H32Y NP_073623.1
XM_017002106.1 123 Missense Mutation CAC,TAC H32Y 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_001122835.2 123 Intron NP_001116307.2
NM_024525.4 123 Intron NP_078801.3
XM_005273260.1 123 Intron XP_005273317.1
XM_005273261.2 123 Intron XP_005273318.1
XM_005273262.1 123 Intron XP_005273319.1
XM_005273264.2 123 Intron XP_005273321.1
XM_006711814.2 123 Intron XP_006711877.1
XM_006711815.2 123 Intron XP_006711878.1
XM_011544275.2 123 Intron XP_011542577.1
XM_011544276.2 123 Intron XP_011542578.1
XM_017002321.1 123 Intron XP_016857810.1
XM_017002322.1 123 Intron XP_016857811.1
XM_017002323.1 123 Intron XP_016857812.1
XM_017002324.1 123 Intron XP_016857813.1
XM_017002325.1 123 Intron XP_016857814.1
XM_017002326.1 123 Intron XP_016857815.1

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