Product Details

SNP ID
rs149244334
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73595861 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTACTTAATGGCGGCATTGAGCT[C/T]CTCAATCTCATCCCGCAGCTGCTGG
Phenotype
MIM: 605678
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MLXIPL PubMed Links

Gene Details

Gene
MLXIPL
Gene Name
MLX interacting protein like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032951.2 2215 Missense Mutation AAG,GAG K723E NP_116569.1
NM_032952.2 2215 Missense Mutation AAG,GAG K704E NP_116570.1
NM_032953.2 2215 Missense Mutation AAG,GAG K721E NP_116571.1
NM_032954.2 2215 Missense Mutation AAG,GAG K702E NP_116572.1
XM_011516277.1 2215 Missense Mutation AAG,GAG K788E XP_011514579.1
XM_011516278.1 2215 Missense Mutation AAG,GAG K787E XP_011514580.1
XM_011516279.1 2215 Missense Mutation AAG,GAG K770E XP_011514581.1
XM_011516281.2 2215 Missense Mutation AAG,GAG K447E XP_011514583.1
XM_017012263.1 2215 Missense Mutation AAG,GAG K420E XP_016867752.1

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