Product Details

SNP ID
rs143273976
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:112406810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGGGGGTAATGCTGGCTCGCAG[G/T]TTTCTCACGTGCTGACTGAAGGGTT
Phenotype
MIM: 603703
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RPL6 PubMed Links

Gene Details

Gene
RPL6
Gene Name
ribosomal protein L6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000970.4 696 Intron NP_000961.2
NM_001024662.2 696 Intron NP_001019833.1
NM_001320137.1 696 Intron NP_001307066.1
NM_001320138.1 696 Missense Mutation AAA,AAC K139N NP_001307067.1
NM_001320139.1 696 Intron NP_001307068.1
NM_001320140.1 696 Missense Mutation AAA,AAC K139N NP_001307069.1
NM_001320141.1 696 Missense Mutation AAA,AAC K139N NP_001307070.1
NM_001320142.1 696 Intron NP_001307071.1
XM_017019781.1 696 Missense Mutation AAA,AAC K139N XP_016875270.1
XM_017019782.1 696 Intron XP_016875271.1

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