Product Details

SNP ID
rs146481344
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:131016144 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTAAAGTTTCCCATGGTGCTTAC[C/T]GAGTTAGGTCTGGCTCTGGGAGAGG
Phenotype
MIM: 604384
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASTE1 PubMed Links

Gene Details

Gene
ASTE1
Gene Name
asteroid homolog 1 (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288950.1 1978 Missense Mutation CAC,CGC H570R NP_001275879.1
NM_014065.3 1978 Missense Mutation CAA,CGA Q570R NP_054784.2
XM_017006266.1 1978 UTR 3 XP_016861755.1
XM_017006267.1 1978 UTR 3 XP_016861756.1
XM_017006268.1 1978 UTR 3 XP_016861757.1
XM_017006269.1 1978 UTR 3 XP_016861758.1
Gene
ATP2C1
Gene Name
ATPase secretory pathway Ca2+ transporting 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001485.2 1978 Intron NP_001001485.1
NM_001001486.1 1978 Intron NP_001001486.1
NM_001001487.1 1978 Intron NP_001001487.1
NM_001199179.1 1978 Intron NP_001186108.1
NM_001199180.1 1978 Intron NP_001186109.1
NM_001199181.1 1978 Intron NP_001186110.1
NM_001199182.1 1978 Intron NP_001186111.1
NM_001199183.1 1978 Intron NP_001186112.1
NM_001199184.1 1978 Intron NP_001186113.1
NM_001199185.1 1978 Intron NP_001186114.1
NM_014382.3 1978 Intron NP_055197.2
XM_005247354.2 1978 Intron XP_005247411.1
XM_005247355.2 1978 Intron XP_005247412.1
XM_005247356.2 1978 Intron XP_005247413.1
XM_005247358.2 1978 Intron XP_005247415.1
XM_011512686.2 1978 Intron XP_011510988.1
XM_017006164.1 1978 Intron XP_016861653.1

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