Product Details

SNP ID
rs145777693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:47463963 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGCCTGCTCACCTGATGCAGTC[A/G]TCTCTCCGTCTTCCGCTTTCTTAAG
Phenotype
MIM: 611803 MIM: 172490
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ITFG1 PubMed Links

Gene Details

Gene
ITFG1
Gene Name
integrin alpha FG-GAP repeat containing 1
There are no transcripts associated with this gene.

Gene
PHKB
Gene Name
phosphorylase kinase regulatory subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000293.2 210 Intron NP_000284.1
NM_001031835.2 210 Missense Mutation ATC,GTC I9V NP_001027005.1
XM_005255983.4 210 Intron XP_005256040.1
XM_005255984.4 210 Missense Mutation ATC,GTC I9V XP_005256041.1
XM_017023282.1 210 Intron XP_016878771.1
XM_017023283.1 210 UTR 5 XP_016878772.1
XM_017023284.1 210 Intron XP_016878773.1

View Full Product Details