Product Details
- SNP ID
-
rs140758986
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:58160176 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTCTACTAGTTAGTAGTCCTCTCA[C/G]CCACTGCAAATTTTAAAAGATAAAG
- Phenotype
-
MIM: 608111
MIM: 602169
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FANCL
PubMed Links
Gene Details
- Gene
- FANCL
- Gene Name
- Fanconi anemia complementation group L
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001114636.1 |
1136 |
Missense Mutation |
CTG,GTG |
L347V |
NP_001108108.1 |
NM_018062.3 |
1136 |
Missense Mutation |
CTG,GTG |
L342V |
NP_060532.2 |
XM_005264395.3 |
1136 |
Missense Mutation |
CTG,GTG |
L342V |
XP_005264452.1 |
XM_005264397.4 |
1136 |
Missense Mutation |
CTG,GTG |
L225V |
XP_005264454.1 |
XM_011532939.2 |
1136 |
Missense Mutation |
CTG,GTG |
L362V |
XP_011531241.1 |
XM_011532940.2 |
1136 |
Missense Mutation |
CTG,GTG |
L357V |
XP_011531242.1 |
XM_011532941.1 |
1136 |
Missense Mutation |
CTG,GTG |
L362V |
XP_011531243.1 |
XM_011532942.2 |
1136 |
Missense Mutation |
CTG,GTG |
L347V |
XP_011531244.1 |
XM_011532944.2 |
1136 |
Missense Mutation |
CTG,GTG |
L245V |
XP_011531246.1 |
XM_011532945.2 |
1136 |
Missense Mutation |
CTG,GTG |
L230V |
XP_011531247.1 |
XM_017004414.1 |
1136 |
Missense Mutation |
CTG,GTG |
L357V |
XP_016859903.1 |
XM_017004415.1 |
1136 |
Intron |
|
|
XP_016859904.1 |
XM_017004416.1 |
1136 |
Missense Mutation |
CTG,GTG |
L225V |
XP_016859905.1 |
- Gene
- VRK2
- Gene Name
- vaccinia related kinase 2
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