Product Details

SNP ID
rs199667995
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62678518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTCAAGGCCGCCTTGCTCTGAG[A/G]AAGTGGGCTCCCGTCCCAGGATATG
Phenotype
MIM: 616378 MIM: 616097
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LBHD1 PubMed Links

Gene Details

Gene
LBHD1
Gene Name
LBH domain containing 1
There are no transcripts associated with this gene.

Gene
LRRN4CL
Gene Name
LRRN4 C-terminal like
There are no transcripts associated with this gene.

Gene
UBXN1
Gene Name
UBX domain protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286077.1 300 Missense Mutation TCC,TTC S66F NP_001273006.1
NM_001286078.1 300 Intron NP_001273007.1
NM_015853.4 300 Missense Mutation TCC,TTC S66F NP_056937.2
XM_005274033.4 300 Missense Mutation TCC,TTC S66F XP_005274090.1
XM_011545090.2 300 Missense Mutation TCC,TTC S66F XP_011543392.1
XM_017017874.1 300 Missense Mutation TCC,TTC S66F XP_016873363.1
Gene
UQCC3
Gene Name
ubiquinol-cytochrome c reductase complex assembly factor 3
There are no transcripts associated with this gene.

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