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GTGTCCTTGGTCCTCATGGCTCTGT[C/T]CTTTTCTCATTTCAGAACTATAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608894 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AHI1 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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AHI1 - Abelson helper integration site 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134830.1 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | NP_001128302.1 | |
NM_001134831.1 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | NP_001128303.1 | |
NM_001134832.1 | 3765 | Intron | NP_001128304.1 | |||
NM_017651.4 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | NP_060121.3 | |
XM_011535910.2 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | XP_011534212.1 | |
XM_011535911.2 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | XP_011534213.1 | |
XM_017010977.1 | 3765 | Missense Mutation | GAA,GGA | E,G 1168 | XP_016866466.1 | |
XM_017010978.1 | 3765 | Intron | XP_016866467.1 | |||
XM_017010979.1 | 3765 | Intron | XP_016866468.1 | |||
XM_017010980.1 | 3765 | UTR 3 | XP_016866469.1 | |||
XM_017010981.1 | 3765 | Missense Mutation | GAA,GGA | E,G 1150 | XP_016866470.1 | |
XM_017010982.1 | 3765 | Intron | XP_016866471.1 | |||
XM_017010983.1 | 3765 | Intron | XP_016866472.1 | |||
XM_017010984.1 | 3765 | Intron | XP_016866473.1 |