Product Details

SNP ID
rs200358212
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:89368678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCAGCCAGTGGTGGTGGTGGCC[A/G]TTGTAGGACTGTACCGTACAGGGAA
Phenotype
MIM: 612467
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GBP6 PubMed Links

Gene Details

Gene
GBP6
Gene Name
guanylate binding protein family member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320257.1 230 Intron NP_001307186.1
NM_198460.2 230 Missense Mutation ATT,GTT I43V NP_940862.2
XM_011540835.2 230 Missense Mutation ATT,GTT I43V XP_011539137.1

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