Product Details

SNP ID
rs1062780
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:140455121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTATCTGCTTGATGTTCCCACTT[G/T]CTGTCTCTGTGGCTCCTCTCTACGG
Phenotype
MIM: 607754
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MKRN1 PubMed Links

Gene Details

Gene
MKRN1
Gene Name
makorin ring finger protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145125.1 1224 Intron NP_001138597.1
NM_001291663.1 1224 Intron NP_001278592.1
NM_013446.3 1224 Missense Mutation AAA,CAA K404Q NP_038474.2
XM_011515996.1 1224 Missense Mutation AAA,CAA K361Q XP_011514298.1
XM_011515997.2 1224 Missense Mutation AAA,CAA K340Q XP_011514299.1
XM_011515998.1 1224 Intron XP_011514300.1

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