Product Details
- SNP ID
-
rs4150177
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:84179022 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- TGTGCTGCTGGGAGCGAGTGGCCCG[C/G]ACGCTGGAGGCCTGGGAGTGGGGAG
- Phenotype
-
MIM: 613190
MIM: 604905
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
DNAAF1
PubMed Links
Gene Details
- Gene
- DNAAF1
- Gene Name
- dynein axonemal assembly factor 1
- Gene
- TAF1C
- Gene Name
- TATA-box binding protein associated factor, RNA polymerase I subunit C
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001243156.1 |
2786 |
Silent Mutation |
GTC,GTG |
V817V |
NP_001230085.1 |
NM_001243157.1 |
2786 |
Silent Mutation |
GTC,GTG |
V511V |
NP_001230086.1 |
NM_001243158.1 |
2786 |
Silent Mutation |
GTC,GTG |
V511V |
NP_001230087.1 |
NM_001243159.1 |
2786 |
Silent Mutation |
GTC,GTG |
V434V |
NP_001230088.1 |
NM_001243160.1 |
2786 |
Silent Mutation |
GTC,GTG |
V366V |
NP_001230089.1 |
NM_005679.3 |
2786 |
Silent Mutation |
GTC,GTG |
V843V |
NP_005670.3 |
NM_139353.2 |
2786 |
Silent Mutation |
GTC,GTG |
V749V |
NP_647610.2 |
XM_005256226.3 |
2786 |
Silent Mutation |
GTC,GTG |
V843V |
XP_005256283.1 |
XM_005256227.3 |
2786 |
Silent Mutation |
GTC,GTG |
V776V |
XP_005256284.1 |
XM_006721325.3 |
2786 |
Silent Mutation |
GTC,GTG |
V844V |
XP_006721388.1 |
XM_006721326.3 |
2786 |
Silent Mutation |
GTC,GTG |
V818V |
XP_006721389.1 |
XM_017023845.1 |
2786 |
Silent Mutation |
GTC,GTG |
V817V |
XP_016879334.1 |
XM_017023846.1 |
2786 |
Silent Mutation |
GTC,GTG |
V776V |
XP_016879335.1 |
XM_017023847.1 |
2786 |
Silent Mutation |
GTC,GTG |
V750V |
XP_016879336.1 |
XM_017023848.1 |
2786 |
Silent Mutation |
GTC,GTG |
V511V |
XP_016879337.1 |
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