Product Details

SNP ID
rs148430793
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:85659148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGCCAGAGCGTGCAGTGTCCACC[A/C]TTGACTACGCTGGGGAATTGCTGAT
Phenotype
MIM: 178640 MIM: 611594
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SFTPB PubMed Links

Gene Details

Gene
SFTPB
Gene Name
surfactant protein B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000542.3 1836 UTR 3 NP_000533.3
NM_198843.2 1836 Intron NP_942140.2
XM_005264487.2 1836 UTR 3 XP_005264544.1
XM_005264488.3 1836 UTR 3 XP_005264545.2
XM_005264490.4 1836 Intron XP_005264547.2
XM_017004702.1 1836 Intron XP_016860191.1
XM_017004703.1 1836 Intron XP_016860192.1
Gene
USP39
Gene Name
ubiquitin specific peptidase 39
There are no transcripts associated with this gene.

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