Product Details

SNP ID
rs201288276
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:63954454 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGTGAAGATGGAGATATTCATC[A/G]AGGTTTTCAGTCACTTCTTGTTGCA
Phenotype
MIM: 612086
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HMSD PubMed Links

Gene Details

Gene
HMSD
Gene Name
histocompatibility minor serpin domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001123366.1 363 Missense Mutation CAA,CGA Q40R NP_001116838.1
XM_011525930.2 363 Missense Mutation CAA,CGA Q40R XP_011524232.1
XM_017025710.1 363 Missense Mutation CAA,CGA Q40R XP_016881199.1

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