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CAGGACGATCACCAGGTCTGCACTC[A/G]GGATGGTGTGCACTCGATGCTGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600509 MIM: 600937 | ||||||||||||||||||||||||||||||||
Literature Links: |
ABCC8 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian
|
CEPH (CEU) - Not Available | |||
EAS - Not Available | African American
|
YRI (Yoruba) - Not Available | |||
SAS - Not Available | Japanese
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CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Chinese
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JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
ABCC8 - ATP binding cassette subfamily C member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000352.4 | 4757 | Missense Mutation | CCG,CTG | P,L 1543 | NP_000343.2 | |
NM_001287174.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1544 | NP_001274103.1 | |
XM_011520331.2 | 4757 | Missense Mutation | CCG,CTG | P,L 1543 | XP_011518633.1 | |
XM_017018197.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1566 | XP_016873686.1 | |
XM_017018198.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1565 | XP_016873687.1 | |
XM_017018199.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1565 | XP_016873688.1 | |
XM_017018200.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1542 | XP_016873689.1 | |
XM_017018201.1 | 4757 | Intron | XP_016873690.1 | |||
XM_017018202.1 | 4757 | Missense Mutation | CCG,CTG | P,L 1065 | XP_016873691.1 | |
XM_017018203.1 | 4757 | Intron | XP_016873692.1 | |||
XM_017018204.1 | 4757 | Missense Mutation | CCG,CTG | P,L 862 | XP_016873693.1 |
KCNJ11 - potassium voltage-gated channel subfamily J member 11 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
DME Validated Inventoried |