Product Details

SNP ID

rs145001682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63661932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGGTCATCAACGAGCTTCGGAA[C/T]ACCTCCTACCGGTGGGTCAGACGAG

Phenotype

MIM: 608833 MIM: 608362

Polymorphism

C/T, Transition 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	1211	Silent Mutation	AAC,AAT	N128N	NP_001269938.1
NM_001283010.1	1211	UTR 5			NP_001269939.1
NM_016434.3	1211	Silent Mutation	AAC,AAT	N128N	NP_057518.1
NM_032957.4	1211	Silent Mutation	AAC,AAT	N128N	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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