Product Details

SNP ID

rs3024830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85657521 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGCTGCATAGACAGCTCTTTCTGG[C/T]GCTTGAACGGTGGAGGTGTGGAGCC

Phenotype

MIM: 178640 MIM: 611594

Polymorphism

C/T, Transition 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	3463	UTR 3			NP_000533.3
NM_198843.2	3463	UTR 3			NP_942140.2
XM_005264487.2	3463	Intron			XP_005264544.1
XM_005264488.3	3463	Intron			XP_005264545.2
XM_005264490.4	3463	Intron			XP_005264547.2
XM_017004702.1	3463	Intron			XP_016860191.1
XM_017004703.1	3463	Intron			XP_016860192.1

Gene

USP39

Gene Name

ubiquitin specific peptidase 39

There are no transcripts associated with this gene.

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