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GGGAGGGGCCCTGCTGGCGCAAAAG[G/T]GGTAGGGAACAGCCTGGTAGGGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607784 | ||||||||||||||||||||
Literature Links: |
ABCG4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
ABCG4 - ATP binding cassette subfamily G member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142505.1 | 249 | Missense Mutation | AGG,AGT | R,S 79 | NP_001135977.1 | |
NM_022169.4 | 249 | Missense Mutation | AGG,AGT | R,S 79 | NP_071452.2 | |
XM_011542952.2 | 249 | Intron | XP_011541254.1 | |||
XM_017018121.1 | 249 | UTR 5 | XP_016873610.1 |