Product Details

SNP ID
rs200141117
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:19535092 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGACGGTGCTGGTCGTGTGTGGCC[C/T]GGAGCAGAACGGGGCAGTGGGGCTG
Phenotype
MIM: 612419 MIM: 609435
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CILP2 PubMed Links

Gene Details

Gene
CILP2
Gene Name
cartilage intermediate layer protein 2
There are no transcripts associated with this gene.

Gene
NDUFA13
Gene Name
NADH:ubiquinone oxidoreductase subunit A13
There are no transcripts associated with this gene.

Gene
YJEFN3
Gene Name
YjeF N-terminal domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190328.1 497 Missense Mutation CCG,CTG P76L NP_001177257.1
NM_198537.3 497 Missense Mutation CCG,CTG P126L NP_940939.2
XM_005259903.4 497 Missense Mutation CCG,CTG P199L XP_005259960.1
XM_011527996.2 497 Intron XP_011526298.1
XM_011527997.1 497 Missense Mutation CCG,CTG P21L XP_011526299.1
XM_011527998.2 497 Missense Mutation CCG,CTG P21L XP_011526300.1
XM_011527999.1 497 Missense Mutation CCG,CTG P21L XP_011526301.1
XM_017026770.1 497 Missense Mutation CCG,CTG P79L XP_016882259.1
XM_017026771.1 497 Missense Mutation CCG,CTG P21L XP_016882260.1

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