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CAGATCATCCAATTTTGTATTCTTT[C/G]CAGTCAAATGTTCATACAGTGCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605460 MIM: 607544 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCG8 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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ABCG8 - ATP binding cassette subfamily G member 8 | ||||||
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There are no transcripts associated with this gene. |
LRPPRC - leucine rich pentatricopeptide repeat containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_133259.3 | 4004 | Missense Mutation | GCA,GGA | A,G 1346 | NP_573566.2 | |
XM_006711915.2 | 4004 | Missense Mutation | GCA,GGA | A,G 1320 | XP_006711978.1 | |
XM_006711916.3 | 4004 | Intron | XP_006711979.1 | |||
XM_011532473.1 | 4004 | Missense Mutation | GCA,GGA | A,G 1321 | XP_011530775.1 | |
XM_017003117.1 | 4004 | Missense Mutation | GCA,GGA | A,G 1295 | XP_016858606.1 |