Product Details

SNP ID
rs77446646
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:20557569 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCACACGTGTACATTTCTATAGC[A/G]TTTGGATGGGATAGAGAAGCCATCC
Phenotype
MIM: 609359
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HS1BP3 PubMed Links

Gene Details

Gene
HS1BP3
Gene Name
HCLS1 binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022460.3 1767 Intron NP_071905.3
XM_017004696.1 1767 Missense Mutation ACG,ATG T395M XP_016860185.1
XM_017004697.1 1767 UTR 3 XP_016860186.1
XM_017004698.1 1767 Intron XP_016860187.1
XM_017004699.1 1767 Missense Mutation ACG,ATG T362M XP_016860188.1
XM_017004700.1 1767 Intron XP_016860189.1
XM_017004701.1 1767 Intron XP_016860190.1

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