Product Details
- SNP ID
-
rs149349546
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:69373909 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTACTATTACTGCCACATCATTAG[G/T]TGTGAATAACTCAAGTCATAGAAGA
- Phenotype
-
MIM: 603139
MIM: 600822
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AK6
PubMed Links
Gene Details
- Gene
- AK6
- Gene Name
- adenylate kinase 6
There are no transcripts associated with this gene.
- Gene
- RAD17
- Gene Name
- RAD17 checkpoint clamp loader component
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001278622.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_001265551.1 |
| NM_002873.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_002864.1 |
| NM_133338.2 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_579916.1 |
| NM_133339.2 |
386 |
Missense Mutation |
GGT,GTT |
G41V |
NP_579917.1 |
| NM_133340.2 |
386 |
UTR 5 |
|
|
NP_579918.1 |
| NM_133341.2 |
386 |
Intron |
|
|
NP_579919.1 |
| NM_133342.2 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_579920.1 |
| NM_133343.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_579921.1 |
| NM_133344.2 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
NP_579922.1 |
| XM_017009679.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
XP_016865168.1 |
| XM_017009680.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
XP_016865169.1 |
| XM_017009681.1 |
386 |
Missense Mutation |
GGT,GTT |
G30V |
XP_016865170.1 |
- Gene
- TAF9
- Gene Name
- TATA-box binding protein associated factor 9
There are no transcripts associated with this gene.
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