Product Details

SNP ID
rs79962349
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:6026261 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGAATGAATGCTAGTGAGAAAAA[A/C]AAAAAAAGGAACAAAAACTATAAAA
Phenotype
MIM: 611195
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C4orf50 PubMed Links

Gene Details

Gene
C4orf50
Gene Name
chromosome 4 open reading frame 50
There are no transcripts associated with this gene.

Gene
JAKMIP1
Gene Name
janus kinase and microtubule interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099433.1 2418 Missense Mutation TTG,TTT L821F NP_001092903.1
NM_001306133.1 2418 Intron NP_001293062.1
NM_001306134.1 2418 Intron NP_001293063.1
NM_144720.3 2418 Intron NP_653321.1
XM_011513400.2 2418 Intron XP_011511702.1
XM_017007788.1 2418 Intron XP_016863277.1
XM_017007789.1 2418 Intron XP_016863278.1
XM_017007790.1 2418 Intron XP_016863279.1
XM_017007791.1 2418 Intron XP_016863280.1
XM_017007792.1 2418 Missense Mutation TTG,TTT L825F XP_016863281.1
XM_017007793.1 2418 Missense Mutation TTG,TTT L821F XP_016863282.1
XM_017007794.1 2418 Intron XP_016863283.1
XM_017007795.1 2418 Intron XP_016863284.1
XM_017007796.1 2418 Intron XP_016863285.1
XM_017007797.1 2418 Intron XP_016863286.1
XM_017007798.1 2418 Intron XP_016863287.1
XM_017007799.1 2418 Missense Mutation TTG,TTT L656F XP_016863288.1

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