Product Details

SNP ID
rs191803589
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82464411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAAAATGCCAAGGACTTCTTCC[A/G]CGTTCTGAACCTTAACAAGGTAAGG
Phenotype
MIM: 605349
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NARF PubMed Links

Gene Details

Gene
NARF
Gene Name
nuclear prelamin A recognition factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001038618.2 279 Missense Mutation CAC,CGC H19R NP_001033707.1
NM_001083608.1 279 Intron NP_001077077.1
NM_012336.3 279 Missense Mutation CAC,CGC H78R NP_036468.1
NM_031968.2 279 Missense Mutation CAC,CGC H78R NP_114174.1
XM_005256340.3 279 Missense Mutation CAC,CGC H19R XP_005256397.1
XM_006722278.3 279 Missense Mutation CAC,CGC H78R XP_006722341.1
XM_011523541.2 279 Missense Mutation CAC,CGC H19R XP_011521843.1
XM_011523543.2 279 UTR 5 XP_011521845.1
XM_011523544.2 279 Missense Mutation CAC,CGC H78R XP_011521846.1
XM_017024449.1 279 UTR 5 XP_016879938.1
XM_017024450.1 279 UTR 5 XP_016879939.1

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