Product Details
- SNP ID
-
rs139164398
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:91262573 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAATTTGATAAAGAAATATCCGACA[C/T]CTCATGTGATGAAACAAAACTAAAA
- Phenotype
-
MIM: 615684
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HFM1
PubMed Links
Gene Details
- Gene
- HFM1
- Gene Name
- HFM1, ATP dependent DNA helicase homolog
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001017975.4 |
3140 |
Missense Mutation |
ATG,GTG |
M1332V |
NP_001017975.4 |
| XM_011540849.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1332V |
XP_011539151.1 |
| XM_011540850.2 |
3140 |
Missense Mutation |
ATG,GTG |
M1332V |
XP_011539152.1 |
| XM_011540851.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1332V |
XP_011539153.1 |
| XM_011540852.2 |
3140 |
Missense Mutation |
ATG,GTG |
M1332V |
XP_011539154.1 |
| XM_011540855.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1290V |
XP_011539157.1 |
| XM_011540857.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1191V |
XP_011539159.1 |
| XM_011540859.2 |
3140 |
Missense Mutation |
ATG,GTG |
M941V |
XP_011539161.1 |
| XM_017000490.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1305V |
XP_016855979.1 |
| XM_017000491.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1288V |
XP_016855980.1 |
| XM_017000492.1 |
3140 |
Missense Mutation |
ATG,GTG |
M1011V |
XP_016855981.1 |
| XM_017000493.1 |
3140 |
Missense Mutation |
ATG,GTG |
M775V |
XP_016855982.1 |
| XM_017000494.1 |
3140 |
Intron |
|
|
XP_016855983.1 |
| XM_017000495.1 |
3140 |
Intron |
|
|
XP_016855984.1 |
| XM_017000496.1 |
3140 |
Intron |
|
|
XP_016855985.1 |
View Full Product Details