Product Details
- SNP ID
-
rs138006413
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:58159493 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGATTTTACCAGTCCAGATATATTC[A/C]AGAAGTCAAGATCTCCATCTTGGTA
- Phenotype
-
MIM: 608111
MIM: 602169
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FANCL
PubMed Links
Gene Details
- Gene
- FANCL
- Gene Name
- Fanconi anemia complementation group L
- Gene
- VRK2
- Gene Name
- vaccinia related kinase 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001130480.2 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
NP_001123952.1 |
NM_001130481.2 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
NP_001123953.1 |
NM_001130482.2 |
1819 |
Missense Mutation |
AAG,CAG |
K420Q |
NP_001123954.1 |
NM_001130483.2 |
1819 |
UTR 3 |
|
|
NP_001123955.1 |
NM_001288836.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
NP_001275765.1 |
NM_001288837.1 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
NP_001275766.1 |
NM_001288838.1 |
1819 |
UTR 3 |
|
|
NP_001275767.1 |
NM_001288839.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
NP_001275768.1 |
NM_006296.6 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
NP_006287.2 |
XM_005264540.4 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
XP_005264597.1 |
XM_006712090.3 |
1819 |
UTR 3 |
|
|
XP_006712153.1 |
XM_006712091.3 |
1819 |
UTR 3 |
|
|
XP_006712154.1 |
XM_006712092.3 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_006712155.1 |
XM_006712093.3 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_006712156.1 |
XM_011533092.2 |
1819 |
Missense Mutation |
AAG,CAG |
K443Q |
XP_011531394.1 |
XM_017004858.1 |
1819 |
UTR 3 |
|
|
XP_016860347.1 |
XM_017004859.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_016860348.1 |
XM_017004860.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_016860349.1 |
XM_017004861.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_016860350.1 |
XM_017004862.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_016860351.1 |
XM_017004863.1 |
1819 |
Missense Mutation |
AAG,CAG |
K325Q |
XP_016860352.1 |
XM_017004864.1 |
1819 |
UTR 3 |
|
|
XP_016860353.1 |
XM_017004865.1 |
1819 |
UTR 3 |
|
|
XP_016860354.1 |
XM_017004866.1 |
1819 |
UTR 3 |
|
|
XP_016860355.1 |
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