Product Details

SNP ID
rs138349269
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:39556433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAATCTGCAACACTTACATTAT[A/G]AGGACTGGTTGGCTTTCCAGGTAGG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SMIM14 PubMed Links

Gene Details

Gene
SMIM14
Gene Name
small integral membrane protein 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317896.1 447 Missense Mutation CAT,TAT H88Y NP_001304825.1
NM_001317897.1 447 Missense Mutation CAT,TAT H88Y NP_001304826.1
NM_174921.2 447 Missense Mutation CAT,TAT H88Y NP_777581.1
XM_011513640.2 447 Missense Mutation CAT,TAT H111Y XP_011511942.1
XM_017007862.1 447 Missense Mutation CAT,TAT H88Y XP_016863351.1
XM_017007863.1 447 Missense Mutation CAT,TAT H88Y XP_016863352.1
Gene
UGDH-AS1
Gene Name
UGDH antisense RNA 1
There are no transcripts associated with this gene.

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