Product Details

SNP ID

rs3024826

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85659042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTACAGAAAGACAAAAAGAAACC[C/G]CTTTTTATATCTTAACAAAGCAATA

Phenotype

MIM: 178640 MIM: 611594

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

SFTPB PubMed Links

Additional Information

For this assay, SNP(s) [rs147067432] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1942	UTR 3			NP_000533.3
NM_198843.2	1942	Intron			NP_942140.2
XM_005264487.2	1942	UTR 3			XP_005264544.1
XM_005264488.3	1942	UTR 3			XP_005264545.2
XM_005264490.4	1942	Intron			XP_005264547.2
XM_017004702.1	1942	Intron			XP_016860191.1
XM_017004703.1	1942	Intron			XP_016860192.1

Gene

USP39

Gene Name

ubiquitin specific peptidase 39

There are no transcripts associated with this gene.

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