Product Details

SNP ID
rs140213848
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63700462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCGCCTACGTGATGTCCCTCTGC[C/T]GCGGCGGCCGGTGCACATTCCGCAC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134758.3 735 UTR 3 NP_001128230.1
NM_001267544.2 735 UTR 3 NP_001254473.1
NM_001267545.2 735 UTR 3 NP_001254474.1
NM_001267546.2 735 Missense Mutation CAG,CGG Q149R NP_001254475.1
NM_001267547.2 735 Missense Mutation CAG,CGG Q196R NP_001254476.1
NM_001267548.2 735 Missense Mutation CAG,CGG Q196R NP_001254477.1
NM_001267549.2 735 UTR 3 NP_001254478.1
NM_003224.5 735 Missense Mutation CAG,CGG Q196R NP_003215.1
XM_011528482.2 735 Missense Mutation CAG,CGG Q196R XP_011526784.1
XM_011528483.1 735 Missense Mutation CAG,CGG Q196R XP_011526785.1
XM_017027576.1 735 Missense Mutation CAG,CGG Q196R XP_016883065.1
Gene
RTEL1
Gene Name
regulator of telomere elongation helicase 1
There are no transcripts associated with this gene.

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
There are no transcripts associated with this gene.

Gene
ZGPAT
Gene Name
zinc finger CCCH-type and G-patch domain containing
There are no transcripts associated with this gene.

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