Product Details

SNP ID
rs75192983
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74554450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCACTCTGACGTCACCTTGGGCA[C/T]ATGACGTCACGCGCAGCCACCACGC
Phenotype
MIM: 602919 MIM: 607163
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DOK1 PubMed Links

Gene Details

Gene
DOK1
Gene Name
docking protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197260.1 291 Intron NP_001184189.1
NM_001318866.1 291 UTR 5 NP_001305795.1
NM_001318867.1 291 UTR 5 NP_001305796.1
NM_001318868.1 291 UTR 5 NP_001305797.1
NM_001318869.1 291 UTR 5 NP_001305798.1
NM_001381.4 291 UTR 5 NP_001372.1
XM_017003528.1 291 Intron XP_016859017.1
Gene
LOXL3
Gene Name
lysyl oxidase like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289164.1 291 Intron NP_001276093.1
NM_001289165.1 291 Intron NP_001276094.1
NM_032603.3 291 Intron NP_115992.1
XM_011533134.2 291 Intron XP_011531436.1
XM_017005112.1 291 Intron XP_016860601.1
Gene
M1AP
Gene Name
meiosis 1 associated protein
There are no transcripts associated with this gene.

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