Product Details

SNP ID
rs1054173
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:175924326 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTATTCTTTGGCCCTTCAACTAAC[C/T]GATTTGTACACAGATAATAAATCCA
Phenotype
MIM: 610236
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LNPK PubMed Links

Gene Details

Gene
LNPK
Gene Name
lunapark, ER junction formation factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305008.1 7269 UTR 3 NP_001291937.1
NM_001305009.1 7269 UTR 3 NP_001291938.1
NM_001305010.1 7269 UTR 3 NP_001291939.1
NM_001305011.1 7269 UTR 3 NP_001291940.1
NM_030650.2 7269 UTR 3 NP_085153.1
XM_005246878.3 7269 UTR 3 XP_005246935.1
XM_005246879.4 7269 UTR 3 XP_005246936.1
XM_005246880.3 7269 UTR 3 XP_005246937.1
XM_006712783.2 7269 UTR 3 XP_006712846.1
XM_011511945.2 7269 UTR 3 XP_011510247.1
XM_017005055.1 7269 UTR 3 XP_016860544.1

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