Product Details

SNP ID
rs183589548
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:157791708 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGGAACCAGACAACTTACCTGTG[A/T]TCTTGACATAGGCAAACCAAGTCCC
Phenotype
MIM: 607265
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CLINT1 PubMed Links

Gene Details

Gene
CLINT1
Gene Name
clathrin interactor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195555.1 1580 Missense Mutation ACA,TCA T459S NP_001182484.1
NM_001195556.1 1580 Missense Mutation ACA,TCA T441S NP_001182485.1
NM_014666.3 1580 Missense Mutation ACA,TCA T459S NP_055481.1
XM_011534701.2 1580 Missense Mutation ACA,TCA T459S XP_011533003.1
XM_017010087.1 1580 Missense Mutation ACA,TCA T459S XP_016865576.1
XM_017010088.1 1580 Missense Mutation ACA,TCA T459S XP_016865577.1

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