Product Details

SNP ID
rs76140449
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41911222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCCGCCACCGACTCACCTGCGC[C/T]GTTGTGGGGGGAGCCCCGGGGGAGG
Phenotype
MIM: 600481
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SHISA8 PubMed Links

Gene Details

Gene
SHISA8
Gene Name
shisa family member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207020.1 741 Missense Mutation AGC,GGC S220G NP_001193949.1
XM_006724254.3 741 Missense Mutation AGC,GGC S220G XP_006724317.1
XM_006724255.2 741 Missense Mutation AGC,GGC S220G XP_006724318.1
XM_006724256.3 741 Missense Mutation AGC,GGC S220G XP_006724319.1
Gene
SREBF2
Gene Name
sterol regulatory element binding transcription factor 2
There are no transcripts associated with this gene.

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