Product Details

SNP ID
rs146617207
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:2328731 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACATGGCGGCAGCGGTGGCGGCT[G/T]CGCTGGCGCGGCTTTTGGCGGCCTT
Phenotype
MIM: 607287 MIM: 608239
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LSM7 PubMed Links

Gene Details

Gene
LSM7
Gene Name
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016199.2 73 Intron NP_057283.1
XM_017026869.1 73 Intron XP_016882358.1
Gene
SPPL2B
Gene Name
signal peptide peptidase like 2B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077238.1 73 Missense Mutation GCG,TCG A8S NP_001070706.1
NM_152988.2 73 Missense Mutation GCG,TCG A8S NP_694533.1
XM_011528138.2 73 Missense Mutation GCG,TCG A35S XP_011526440.1
XM_011528139.1 73 Intron XP_011526441.1
XM_011528140.1 73 Intron XP_011526442.1
XM_017027016.1 73 Missense Mutation GCG,TCG A35S XP_016882505.1
XM_017027017.1 73 UTR 5 XP_016882506.1
XM_017027018.1 73 Intron XP_016882507.1
XM_017027019.1 73 UTR 5 XP_016882508.1

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