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Search Thermo Fisher Scientific
CTGGGAAATTCCTCAGAGCTGCTCA[C/T]GTCAGGAGCCTGTGCAGAGAGAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605096 MIM: 142695 | ||||||||||||||||||||
Literature Links: |
ANO7 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 |
ANO7 - anoctamin 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001666.3 | 3958 | Intron | NP_001001666.1 | |||
NM_001001891.3 | 3958 | Intron | NP_001001891.2 | |||
XM_011511263.2 | 3958 | Intron | XP_011509565.1 | |||
XM_011511267.2 | 3958 | Intron | XP_011509569.1 | |||
XM_017004229.1 | 3958 | Intron | XP_016859718.1 | |||
XM_017004230.1 | 3958 | Intron | XP_016859719.1 |
HDLBP - high density lipoprotein binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243900.2 | 3958 | Missense Mutation | ATG,GTG | M,V 1211 | NP_001230829.1 | |
NM_001320965.1 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | NP_001307894.1 | |
NM_001320966.1 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | NP_001307895.1 | |
NM_001320967.1 | 3958 | Intron | NP_001307896.1 | |||
NM_005336.5 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | NP_005327.1 | |
NM_203346.4 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | NP_976221.1 | |
XM_005247002.3 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_005247059.2 | |
XM_005247003.4 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_005247060.2 | |
XM_006712475.3 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_006712538.1 | |
XM_011511058.2 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_011509360.1 | |
XM_011511060.2 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_011509362.1 | |
XM_017003940.1 | 3958 | Missense Mutation | ATG,GTG | M,V 1244 | XP_016859429.1 | |
XM_017003941.1 | 3958 | Intron | XP_016859430.1 | |||
XM_017003942.1 | 3958 | Intron | XP_016859431.1 |