Product Details

SNP ID
rs143694785
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:112405934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTTGAAGTAAGCATCAGTAAG[A/T]TGTTTTGGGATTTTTACATTGCTGA
Phenotype
MIM: 603703
Polymorphism
A/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_000970.4 912 Intron NP_000961.2
NM_001024662.2 912 Intron NP_001019833.1
NM_001320137.1 912 Intron NP_001307066.1
NM_001320138.1 912 Missense Mutation CAA,CAT Q211H NP_001307067.1
NM_001320139.1 912 Intron NP_001307068.1
NM_001320140.1 912 Missense Mutation CAA,CAT Q211H NP_001307069.1
NM_001320141.1 912 Missense Mutation CAA,CAT Q211H NP_001307070.1
NM_001320142.1 912 Intron NP_001307071.1
XM_017019781.1 912 Missense Mutation CAA,CAT Q211H XP_016875270.1
XM_017019782.1 912 Intron XP_016875271.1

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