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CTCACAGGTCTTGCCACCATAGCCA[C/T]TGGGGCAGAGGCAGTCGAAGTCGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612509 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCC10 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ABCC10 - ATP binding cassette subfamily C member 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198934.1 | 1022 | Intron | NP_001185863.1 | |||
NM_033450.2 | 1022 | Intron | NP_258261.2 | |||
XM_011514974.2 | 1022 | Intron | XP_011513276.2 | |||
XM_011514983.2 | 1022 | Intron | XP_011513285.1 | |||
XM_011514985.2 | 1022 | Intron | XP_011513287.1 | |||
XM_011514986.2 | 1022 | Intron | XP_011513288.1 | |||
XM_017011445.1 | 1022 | Intron | XP_016866934.1 | |||
XM_017011446.1 | 1022 | Intron | XP_016866935.1 | |||
XM_017011447.1 | 1022 | Intron | XP_016866936.1 | |||
XM_017011448.1 | 1022 | Intron | XP_016866937.1 | |||
XM_017011449.1 | 1022 | Intron | XP_016866938.1 | |||
XM_017011450.1 | 1022 | Intron | XP_016866939.1 | |||
XM_017011451.1 | 1022 | Intron | XP_016866940.1 | |||
XM_017011452.1 | 1022 | Intron | XP_016866941.1 | |||
XM_017011453.1 | 1022 | Intron | XP_016866942.1 | |||
XM_017011454.1 | 1022 | Intron | XP_016866943.1 | |||
XM_017011455.1 | 1022 | Intron | XP_016866944.1 | |||
XM_017011456.1 | 1022 | Intron | XP_016866945.1 |
DLK2 - delta like non-canonical Notch ligand 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286655.1 | 1022 | Missense Mutation | AAT,AGT | N,S 203 | NP_001273584.1 | |
NM_001286656.1 | 1022 | Missense Mutation | AAT,AGT | N,S 234 | NP_001273585.1 | |
NM_023932.3 | 1022 | Missense Mutation | AAT,AGT | N,S 240 | NP_076421.2 | |
NM_206539.2 | 1022 | Missense Mutation | AAT,AGT | N,S 240 | NP_996262.1 | |
XM_005249308.4 | 1022 | Missense Mutation | AAT,AGT | N,S 333 | XP_005249365.1 | |
XM_011514823.2 | 1022 | Missense Mutation | AAT,AGT | N,S 302 | XP_011513125.1 | |
XM_017011204.1 | 1022 | Missense Mutation | AAT,AGT | N,S 206 | XP_016866693.1 |