Product Details
- SNP ID
-
rs199637041
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:169854494 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTCCTAAACCAAGTTCTGATGGAA[A/C]CTTAAGGGGCCTTTCTTGTGATGAC
- Phenotype
-
MIM: 608192
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
C1orf112
PubMed Links
Gene Details
- Gene
- C1orf112
- Gene Name
- chromosome 1 open reading frame 112
- Gene
- SCYL3
- Gene Name
- SCY1 like pseudokinase 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_020423.6 |
2116 |
Missense Mutation |
GTT,TTT |
V595F |
NP_065156.5 |
NM_181093.3 |
2116 |
Missense Mutation |
GTT,TTT |
V649F |
NP_851607.2 |
XM_006711465.1 |
2116 |
Missense Mutation |
GTT,TTT |
V649F |
XP_006711528.1 |
XM_011509801.1 |
2116 |
Missense Mutation |
GTT,TTT |
V649F |
XP_011508103.1 |
XM_011509802.1 |
2116 |
Missense Mutation |
GTT,TTT |
V507F |
XP_011508104.1 |
XM_011509803.1 |
2116 |
Missense Mutation |
GTT,TTT |
V507F |
XP_011508105.1 |
XM_017001862.1 |
2116 |
Missense Mutation |
GTT,TTT |
V595F |
XP_016857351.1 |
XM_017001863.1 |
2116 |
Missense Mutation |
GTT,TTT |
V595F |
XP_016857352.1 |
XM_017001864.1 |
2116 |
Missense Mutation |
GTT,TTT |
V453F |
XP_016857353.1 |
XM_017001865.1 |
2116 |
Missense Mutation |
GTT,TTT |
V453F |
XP_016857354.1 |
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