Product Details

SNP ID

rs143769146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:81474340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTCGGCTAACCAACAAACCAAA[C/T]GCACAAGAGAATACTAAACAGGGTT

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	5134	Intron			NP_001231913.1
NM_005065.5	5134	UTR 3			NP_005056.3
XM_005267988.2	5134	UTR 3			XP_005268045.1
XM_005267989.3	5134	UTR 3			XP_005268046.1

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