Product Details

SNP ID
rs200429880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:163469641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATTATCACCTTGTTTTTGTCCAG[A/T]TTCGTGTTCTTCTACAGGAACGTGG
Phenotype
MIM: 600936
Polymorphism
A/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_001142556.1 453 Missense Mutation ATT,TTT I92F NP_001136028.1
NM_001142557.1 453 Missense Mutation ATT,TTT I5F NP_001136029.1
NM_012484.2 453 Missense Mutation ATT,TTT I91F NP_036616.2
NM_012485.2 453 Missense Mutation ATT,TTT I76F NP_036617.2
Gene
NUDCD2
Gene Name
NudC domain containing 2
There are no transcripts associated with this gene.

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