Product Details

SNP ID
rs141543597
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43450909 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGAGGTGGGCCCTAGAGGGGTG[A/T]CCACTGTGGTTGGGGGGTCTGGGAC
Phenotype
MIM: 612509
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ABCC10 PubMed Links

Gene Details

Gene
ABCC10
Gene Name
ATP binding cassette subfamily C member 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198934.1 1085 Intron NP_001185863.1
NM_033450.2 1085 Intron NP_258261.2
XM_011514974.2 1085 Intron XP_011513276.2
XM_011514983.2 1085 Intron XP_011513285.1
XM_011514985.2 1085 Intron XP_011513287.1
XM_011514986.2 1085 Intron XP_011513288.1
XM_017011445.1 1085 Intron XP_016866934.1
XM_017011446.1 1085 Intron XP_016866935.1
XM_017011447.1 1085 Intron XP_016866936.1
XM_017011448.1 1085 Intron XP_016866937.1
XM_017011449.1 1085 Intron XP_016866938.1
XM_017011450.1 1085 Intron XP_016866939.1
XM_017011451.1 1085 Intron XP_016866940.1
XM_017011452.1 1085 Intron XP_016866941.1
XM_017011453.1 1085 Intron XP_016866942.1
XM_017011454.1 1085 Intron XP_016866943.1
XM_017011455.1 1085 Intron XP_016866944.1
XM_017011456.1 1085 Intron XP_016866945.1
Gene
DLK2
Gene Name
delta like non-canonical Notch ligand 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286655.1 1085 Missense Mutation GAC,GTC D224V NP_001273584.1
NM_001286656.1 1085 Missense Mutation GAC,GTC D255V NP_001273585.1
NM_023932.3 1085 Missense Mutation GAC,GTC D261V NP_076421.2
NM_206539.2 1085 Missense Mutation GAC,GTC D261V NP_996262.1
XM_005249308.4 1085 Missense Mutation GAC,GTC D354V XP_005249365.1
XM_011514823.2 1085 Missense Mutation GAC,GTC D323V XP_011513125.1
XM_017011204.1 1085 Missense Mutation GAC,GTC D227V XP_016866693.1

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