Product Details

SNP ID
rs2296888
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:102245617 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCATCCTGGCGGACTGTGCAGTCC[C/T]ACCCTGACTTCGGCCTCAATTTCCA
Phenotype
MIM: 603698 MIM: 602669
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GBF1 PubMed Links

Gene Details

Gene
GBF1
Gene Name
golgi brefeldin A resistant guanine nucleotide exchange factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199378.1 120 UTR 5 NP_001186307.1
NM_001199379.1 120 UTR 5 NP_001186308.1
NM_004193.2 120 UTR 5 NP_004184.1
XM_005270261.1 120 UTR 5 XP_005270318.1
XM_006718047.1 120 UTR 5 XP_006718110.1
XM_006718048.1 120 UTR 5 XP_006718111.1
XM_006718049.1 120 UTR 5 XP_006718112.1
XM_006718050.1 120 UTR 5 XP_006718113.1
XM_011540312.1 120 UTR 5 XP_011538614.1
XM_011540313.1 120 UTR 5 XP_011538615.1
XM_011540314.2 120 Intron XP_011538616.1
XM_017016861.1 120 UTR 5 XP_016872350.1
XM_017016862.1 120 UTR 5 XP_016872351.1
XM_017016863.1 120 UTR 5 XP_016872352.1
XM_017016864.1 120 Intron XP_016872353.1
Gene
PITX3
Gene Name
paired like homeodomain 3
There are no transcripts associated with this gene.

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