Product Details

SNP ID

rs41314527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:81472502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACTCTTGATTTAATATTTTTTC[A/T]TTTCTCCTTTACTCAGAGCATATTT

Phenotype

MIM: 602329

Polymorphism

A/T, Transversion 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	6972	Intron			NP_001231913.1
NM_005065.5	6972	UTR 3			NP_005056.3
XM_005267988.2	6972	Intron			XP_005268045.1
XM_005267989.3	6972	Intron			XP_005268046.1

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