Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTCCGGCTTGTTGAGGTAATTTTG[C/T]CATGGAGGATGCACTGAACTTGGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 615684 | ||||||||||||||||||||
Literature Links: |
HFM1 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 |
HFM1 - HFM1, ATP dependent DNA helicase homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017975.4 | 3197 | Missense Mutation | ACA,GCA | T,A 1351 | NP_001017975.4 | |
XM_011540849.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1351 | XP_011539151.1 | |
XM_011540850.2 | 3197 | Missense Mutation | ACA,GCA | T,A 1351 | XP_011539152.1 | |
XM_011540851.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1351 | XP_011539153.1 | |
XM_011540852.2 | 3197 | Missense Mutation | ACA,GCA | T,A 1351 | XP_011539154.1 | |
XM_011540855.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1309 | XP_011539157.1 | |
XM_011540857.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1210 | XP_011539159.1 | |
XM_011540859.2 | 3197 | Missense Mutation | ACA,GCA | T,A 960 | XP_011539161.1 | |
XM_017000490.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1324 | XP_016855979.1 | |
XM_017000491.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1307 | XP_016855980.1 | |
XM_017000492.1 | 3197 | Missense Mutation | ACA,GCA | T,A 1030 | XP_016855981.1 | |
XM_017000493.1 | 3197 | Missense Mutation | ACA,GCA | T,A 794 | XP_016855982.1 | |
XM_017000494.1 | 3197 | Intron | XP_016855983.1 | |||
XM_017000495.1 | 3197 | Intron | XP_016855984.1 | |||
XM_017000496.1 | 3197 | Intron | XP_016855985.1 |