Product Details

SNP ID
rs200048803
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:45700005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCCCCTTCACAACGACTGGTGAT[C/G]ATGTTACCAATTTCTGTCCATGTAT
Phenotype
MIM: 147485
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
IPP PubMed Links

Gene Details

Gene
IPP
Gene Name
intracisternal A particle-promoted polypeptide
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145349.1 1762 Intron NP_001138821.1
NM_005897.2 1762 Missense Mutation ATC,ATG I572M NP_005888.1
XM_005270839.4 1762 UTR 3 XP_005270896.1
XM_006710623.3 1762 UTR 3 XP_006710686.1
XM_011541394.2 1762 Intron XP_011539696.1
XM_017001210.1 1762 Intron XP_016856699.1
Gene
TMEM69
Gene Name
transmembrane protein 69
There are no transcripts associated with this gene.

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