Product Details
- SNP ID
-
rs201056487
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:74558726 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTGGTGCTGGTGACTTAGGGCCTT[A/G]AGGGATCCTTCTCCCACTCTGAAGG
- Phenotype
-
MIM: 602919
MIM: 607163
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DOK1
PubMed Links
Gene Details
- Gene
- DOK1
- Gene Name
- docking protein 1
There are no transcripts associated with this gene.
- Gene
- LOXL3
- Gene Name
- lysyl oxidase like 3
There are no transcripts associated with this gene.
- Gene
- M1AP
- Gene Name
- meiosis 1 associated protein
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001281295.1 |
869 |
Intron |
|
|
NP_001268224.1 |
NM_001281296.1 |
869 |
Missense Mutation |
TCA,TTA |
S524L |
NP_001268225.1 |
NM_001321739.1 |
869 |
Missense Mutation |
TCA,TTA |
S528L |
NP_001308668.1 |
NM_138804.4 |
869 |
Missense Mutation |
TCA,TTA |
S528L |
NP_620159.2 |
XM_005264152.3 |
869 |
Missense Mutation |
TCA,TTA |
S280L |
XP_005264209.1 |
XM_006711946.3 |
869 |
Missense Mutation |
TCA,TTA |
S566L |
XP_006712009.1 |
XM_011532548.2 |
869 |
Missense Mutation |
TCA,TTA |
S562L |
XP_011530850.1 |
XM_011532549.2 |
869 |
Missense Mutation |
TCA,TTA |
S546L |
XP_011530851.1 |
XM_011532550.2 |
869 |
Missense Mutation |
TCA,TTA |
S528L |
XP_011530852.1 |
XM_011532551.2 |
869 |
Missense Mutation |
TCA,TTA |
S528L |
XP_011530853.1 |
XM_011532552.2 |
869 |
Missense Mutation |
TCA,TTA |
S508L |
XP_011530854.1 |
XM_011532553.2 |
869 |
Missense Mutation |
TCA,TTA |
S497L |
XP_011530855.1 |
XM_011532554.2 |
869 |
Missense Mutation |
TCA,TTA |
S284L |
XP_011530856.1 |
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