Product Details
- SNP ID
-
rs139485976
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:49327981 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTGGGGCTCAAGGGTCACGACTTA[C/G]TGGAGCAGGATGGGGAGGCTGCACA
- Phenotype
-
MIM: 137028
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FAM227B
PubMed Links
Gene Details
- Gene
- FAM227B
- Gene Name
- family with sequence similarity 227 member B
- Gene
- GALK2
- Gene Name
- galactokinase 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001001556.2 |
2242 |
Missense Mutation |
ACT,AGT |
T389S |
NP_001001556.1 |
NM_001289030.1 |
2242 |
Missense Mutation |
ACT,AGT |
T376S |
NP_001275959.1 |
NM_001289031.1 |
2242 |
Missense Mutation |
ACT,AGT |
T376S |
NP_001275960.1 |
NM_002044.3 |
2242 |
Missense Mutation |
ACT,AGT |
T400S |
NP_002035.1 |
XM_005254279.3 |
2242 |
Missense Mutation |
ACT,AGT |
T400S |
XP_005254336.1 |
XM_005254280.3 |
2242 |
Missense Mutation |
ACT,AGT |
T389S |
XP_005254337.1 |
XM_005254284.3 |
2242 |
Missense Mutation |
ACT,AGT |
T356S |
XP_005254341.1 |
XM_006720461.3 |
2242 |
Missense Mutation |
ACT,AGT |
T400S |
XP_006720524.1 |
XM_006720462.3 |
2242 |
Missense Mutation |
ACT,AGT |
T376S |
XP_006720525.1 |
XM_006720463.3 |
2242 |
Missense Mutation |
ACT,AGT |
T367S |
XP_006720526.1 |
XM_006720464.3 |
2242 |
Missense Mutation |
ACT,AGT |
T316S |
XP_006720527.1 |
XM_011521441.2 |
2242 |
Missense Mutation |
ACT,AGT |
T271S |
XP_011519743.1 |
XM_017022062.1 |
2242 |
Missense Mutation |
ACT,AGT |
T343S |
XP_016877551.1 |
XM_017022063.1 |
2242 |
Missense Mutation |
ACT,AGT |
T305S |
XP_016877552.1 |
XM_017022064.1 |
2242 |
Missense Mutation |
ACT,AGT |
T271S |
XP_016877553.1 |
XM_017022065.1 |
2242 |
Missense Mutation |
ACT,AGT |
T271S |
XP_016877554.1 |
XM_017022066.1 |
2242 |
Missense Mutation |
ACT,AGT |
T271S |
XP_016877555.1 |
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