Product Details

SNP ID

rs6062479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63659369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGACCCGAATAGCCTGCCCCTCA[G/T]CCACGCTCTGTGCCCTTCTGAGAAC

Phenotype

MIM: 608833 MIM: 608362

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RTEL1 PubMed Links

Gene Details

Gene

RTEL1

Gene Name

regulator of telomere elongation helicase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001283009.1	794	UTR 5			NP_001269938.1
NM_001283010.1	794	Intron			NP_001269939.1
NM_016434.3	794	UTR 5			NP_057518.1
NM_032957.4	794	UTR 5			NP_116575.3

Gene

RTEL1-TNFRSF6B

Gene Name

RTEL1-TNFRSF6B readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

STMN3

Gene Name

stathmin 3

There are no transcripts associated with this gene.

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