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ACATGGCATAGAATCGGGAACTGTC[A/G]TTGGACAGAAGGACCGATGGGGTGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605251 | |||||||||||||||||||||||
Literature Links: |
ABCC5 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
ABCC5 - ATP binding cassette subfamily C member 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001023587.2 | 4552 | Intron | NP_001018881.1 | |||
NM_001320032.1 | 4552 | Silent Mutation | AAC,AAT | N,N 945 | NP_001306961.1 | |
NM_005688.3 | 4552 | Silent Mutation | AAC,AAT | N,N 1417 | NP_005679.2 | |
XM_005247058.4 | 4552 | Silent Mutation | AAC,AAT | N,N 1417 | XP_005247115.1 | |
XM_005247059.4 | 4552 | Silent Mutation | AAC,AAT | N,N 1417 | XP_005247116.1 | |
XM_011512314.1 | 4552 | Silent Mutation | AAC,AAT | N,N 1417 | XP_011510616.1 | |
XM_011512315.1 | 4552 | Intron | XP_011510617.1 | |||
XM_017005492.1 | 4552 | Silent Mutation | AAC,AAT | N,N 1239 | XP_016860981.1 | |
XM_017005493.1 | 4552 | Intron | XP_016860982.1 | |||
XM_017005494.1 | 4552 | Intron | XP_016860983.1 |