Product Details

SNP ID
rs147813784
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:139728940 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGTATGCTTGTAGGACAATAAC[A/G]TAGGCAGTTCAAGATTCGGATTCTG
Phenotype
MIM: 300516
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATP11C PubMed Links

Gene Details

Gene
ATP11C
Gene Name
ATPase phospholipid transporting 11C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010986.2 4141 Missense Mutation ACG,ATG T1107M NP_001010986.1
NM_173694.4 4141 UTR 3 NP_775965.2
XM_017029439.1 4141 UTR 3 XP_016884928.1
XM_017029440.1 4141 UTR 3 XP_016884929.1
XM_017029441.1 4141 UTR 3 XP_016884930.1
XM_017029442.1 4141 UTR 3 XP_016884931.1
XM_017029443.1 4141 Missense Mutation ACG,ATG T1127M XP_016884932.1
XM_017029444.1 4141 UTR 3 XP_016884933.1
XM_017029445.1 4141 UTR 3 XP_016884934.1
XM_017029446.1 4141 UTR 3 XP_016884935.1
XM_017029447.1 4141 Missense Mutation ACG,ATG T1104M XP_016884936.1
XM_017029448.1 4141 UTR 3 XP_016884937.1
XM_017029449.1 4141 UTR 3 XP_016884938.1

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