Product Details

SNP ID
rs201500282
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:47461376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGCGGGGGCGGCGGGACTCACGG[C/T]AGAAGTGAGCTGGAAGGTCTTGGAG
Phenotype
MIM: 611803 MIM: 172490
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ITFG1 PubMed Links

Gene Details

Gene
ITFG1
Gene Name
integrin alpha FG-GAP repeat containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305002.1 44 Intron NP_001291931.1
NM_030790.4 44 Intron NP_110417.2
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 44 Missense Mutation GCA,GTA A9V NP_000284.1
NM_001031835.2 44 UTR 5 NP_001027005.1
XM_005255983.4 44 Missense Mutation GCA,GTA A9V XP_005256040.1
XM_005255984.4 44 UTR 5 XP_005256041.1
XM_017023282.1 44 Intron XP_016878771.1
XM_017023283.1 44 UTR 5 XP_016878772.1
XM_017023284.1 44 UTR 5 XP_016878773.1

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