Product Details

SNP ID
rs143438793
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:81802417 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGGACATCTTGATCAACCTCAA[C/G]TGCAGAGGACTCCACCTTTAGGATC
Phenotype
MIM: 614903
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SNX16 PubMed Links

Gene Details

Gene
SNX16
Gene Name
sorting nexin 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022133.3 1162 Missense Mutation CTT,GTT L301V NP_071416.2
NM_152836.2 1162 Missense Mutation CTT,GTT L301V NP_690049.1
NM_152837.2 1162 Missense Mutation CTT,GTT L272V NP_690050.1
XM_005251282.4 1162 Missense Mutation CTT,GTT L272V XP_005251339.1
XM_005251283.2 1162 Missense Mutation CTT,GTT L272V XP_005251340.1
XM_011517574.2 1162 Missense Mutation CTT,GTT L144V XP_011515876.1

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