Product Details

SNP ID
rs199625105
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:152991126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGTTCCCGAAAACACTTTCAGT[A/T]TCCTGTACCACATACTTTCTTTCGG
Phenotype
MIM: 300916
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PNMA5 PubMed Links

Gene Details

Gene
PNMA5
Gene Name
paraneoplastic Ma antigen family member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001103150.1 812 Missense Mutation AAA,ATA K158I NP_001096620.1
NM_001103151.1 812 Missense Mutation AAA,ATA K158I NP_001096621.1
NM_001184924.1 812 Missense Mutation AAA,ATA K158I NP_001171853.1
NM_052926.2 812 Missense Mutation AAA,ATA K158I NP_443158.1
XM_017029252.1 812 Missense Mutation AAA,ATA K158I XP_016884741.1
XM_017029253.1 812 Missense Mutation AAA,ATA K158I XP_016884742.1

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