Product Details

SNP ID
rs140636944
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:4490536 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATAACATACCTGTGGTACTAGAA[A/G]TTGCACTGTCCTAGAAATTCCTCCA
Phenotype
MIM: 616082
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C12orf4 PubMed Links

Gene Details

Gene
C12orf4
Gene Name
chromosome 12 open reading frame 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304811.1 1548 Missense Mutation CTT,TTT L518F NP_001291740.1
NM_020374.3 1548 Missense Mutation CTT,TTT L518F NP_065107.1
XM_005253716.1 1548 Missense Mutation CTT,TTT L475F XP_005253773.1
XM_006718992.3 1548 Intron XP_006719055.1

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