Product Details

SNP ID

rs812265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:81474301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTAAAATAAAACTAGAAGCAAAA[G/T]GAATAGTTTCAAGACAGTCGGCTAA

Phenotype

MIM: 602329

Polymorphism

G/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	5173	Intron			NP_001231913.1
NM_005065.5	5173	UTR 3			NP_005056.3
XM_005267988.2	5173	UTR 3			XP_005268045.1
XM_005267989.3	5173	UTR 3			XP_005268046.1

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