Product Details

SNP ID
rs192487581
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31615694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAATTCCTAGACGATCCCAAATAT[A/G]GCAGTGATGAGGATCTGCCCTCCAA
Phenotype
MIM: 601833 MIM: 142580
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AIF1 PubMed Links

Gene Details

Gene
AIF1
Gene Name
allograft inflammatory factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318970.1 172 UTR 5 NP_001305899.1
NM_001623.4 172 Missense Mutation AGC,GGC S38G NP_001614.3
NM_032955.2 172 Intron NP_116573.1
XM_005248870.4 172 Missense Mutation AGC,GGC S38G XP_005248927.1
XM_017010332.1 172 UTR 5 XP_016865821.1
Gene
PRRC2A
Gene Name
proline rich coiled-coil 2A
There are no transcripts associated with this gene.

Gene
SNORA38
Gene Name
small nucleolar RNA, H/ACA box 38
There are no transcripts associated with this gene.

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