Product Details

SNP ID
rs78473374
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:44883123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGGGTGCTGGACGGTGGGGTGT[A/G]TGGCTGCCACTGAGGGCTTGGTCCA
Phenotype
MIM: 616727
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PHF21B PubMed Links

Gene Details

Gene
PHF21B
Gene Name
PHD finger protein 21B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135862.2 1710 Missense Mutation ACA,ATA T478I NP_001129334.1
NM_001242450.1 1710 Missense Mutation ACA,ATA T466I NP_001229379.1
NM_001284296.1 1710 Missense Mutation ACA,ATA T316I NP_001271225.1
NM_138415.4 1710 Missense Mutation ACA,ATA T520I NP_612424.1
XM_006724122.1 1710 Missense Mutation ACA,ATA T478I XP_006724185.1
XM_011529855.1 1710 Intron XP_011528157.1

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