Product Details

SNP ID

rs142628179

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:79937950 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACAGTCCTCTGACCCGCCATCAT[C/T]GTTGGGCTCCCCTGGGGCCCAGTTG

Phenotype

MIM: 178635

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BMS1P21 PubMed Links

Gene Details

Gene

BMS1P21

Gene Name

BMS1, ribosome biogenesis factor pseudogene 21

There are no transcripts associated with this gene.

Gene

SFTPD

Gene Name

surfactant protein D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003019.4	1073	Missense Mutation	AAT,GAT	N344D	NP_003010.4
XM_011540087.1	1073	Missense Mutation	AAT,GAT	N344D	XP_011538389.1
XM_011540088.2	1073	Missense Mutation	AAT,GAT	N305D	XP_011538390.1

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