Product Details

SNP ID: rs2257440
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:63696914 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CAGAGACAGGGGAGCGGCTGGTGTG[C/T]GCCCAGTGCCCCCCAGGCACCTTTG
Phenotype: MIM: 604699 MIM: 608833 MIM: 603361
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ARFRP1 PubMed Links

Gene Details

Gene: ARFRP1
Gene Name: ADP ribosylation factor related protein 1

There are no transcripts associated with this gene.

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	264	Intron			NP_001269938.1
NM_001283010.1	264	Intron			NP_001269939.1
NM_016434.3	264	Intron			NP_057518.1
NM_032957.4	264	Intron			NP_116575.3

Gene: RTEL1-TNFRSF6B
Gene Name: RTEL1-TNFRSF6B readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene: TNFRSF6B
Gene Name: TNF receptor superfamily member 6b

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003823.3	264	Silent Mutation	TGC,TGT	C49C	NP_003814.1

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