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ACCAAGCAGTCTCCACTGGAACCAC[C/T]CATGCTGGATGTCGCGGAGCTGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605414 MIM: 602373 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCA7 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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ABCA7 - ATP binding cassette subfamily A member 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_019112.3 | 673 | Missense Mutation | CCC,CTC | P,L 152 | NP_061985.2 | |
XM_006722616.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_006722679.1 | |
XM_006722617.2 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_006722680.1 | |
XM_006722618.2 | 673 | Intron | XP_006722681.1 | |||
XM_011527628.2 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525930.1 | |
XM_011527629.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525931.1 | |
XM_011527630.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525932.1 | |
XM_011527631.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525933.1 | |
XM_011527632.1 | 673 | UTR 5 | XP_011525934.1 | |||
XM_011527633.2 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525935.1 | |
XM_011527634.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525936.1 | |
XM_011527635.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_011525937.1 | |
XM_011527636.2 | 673 | Intron | XP_011525938.1 | |||
XM_017026142.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_016881631.1 | |
XM_017026143.1 | 673 | Missense Mutation | CCC,CTC | P,L 152 | XP_016881632.1 |
CNN2 - calponin 2 | ||||||
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There are no transcripts associated with this gene. |