Product Details

SNP ID
rs146871867
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:163463894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGGTGCTTATGATGTTAAAACT[G/T]TAGAAGTATTGAAAGGACCAGTATC
Phenotype
MIM: 600936
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HMMR PubMed Links

Gene Details

Gene
HMMR
Gene Name
hyaluronan mediated motility receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142556.1 267 Missense Mutation GTA,TTA V29L NP_001136028.1
NM_001142557.1 267 Intron NP_001136029.1
NM_012484.2 267 Missense Mutation GTA,TTA V29L NP_036616.2
NM_012485.2 267 Missense Mutation GTA,TTA V29L NP_036617.2
Gene
NUDCD2
Gene Name
NudC domain containing 2
There are no transcripts associated with this gene.

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