Product Details

SNP ID

rs75468253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:81475564 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTAGTATAAACATACTGACATCAG[C/T]AGGCATAGAAAACCTGCTCAGATAC

Phenotype

MIM: 602329

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SEL1L PubMed Links

Gene Details

Gene

SEL1L

Gene Name

SEL1L ERAD E3 ligase adaptor subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244984.1	3910	Intron			NP_001231913.1
NM_005065.5	3910	UTR 3			NP_005056.3
XM_005267988.2	3910	UTR 3			XP_005268045.1
XM_005267989.3	3910	UTR 3			XP_005268046.1

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