Product Details

SNP ID
rs138906145
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109933041 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGGCAGCCTTGGCGATGTCGTA[C/T]GCACACTGGATGACCTGCTGCGTGA
Phenotype
MIM: 608564
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GIT2 PubMed Links

Gene Details

Gene
GIT2
Gene Name
GIT ArfGAP 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139201.2 2227 Intron NP_631940.2
XM_005253997.3 2227 Silent Mutation GCA,GCG A738A XP_005254054.1
XM_005254000.3 2227 Silent Mutation GCA,GCG A688A XP_005254057.1
XM_006719707.3 2227 Silent Mutation GCA,GCG A724A XP_006719770.1
XM_006719708.3 2227 Silent Mutation GCA,GCG A694A XP_006719771.1
XM_006719709.3 2227 Silent Mutation GCA,GCG A689A XP_006719772.1
XM_006719712.3 2227 Silent Mutation GCA,GCG A576A XP_006719775.1
XM_006719713.3 2227 Intron XP_006719776.1
XM_006719714.3 2227 Intron XP_006719777.1
XM_017020258.1 2227 Silent Mutation GCA,GCG A693A XP_016875747.1
XM_017020259.1 2227 UTR 3 XP_016875748.1
XM_017020260.1 2227 Intron XP_016875749.1
XM_017020261.1 2227 Intron XP_016875750.1

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