Product Details

SNP ID
rs144598021
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:107840912 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTGTCCTACCTGCAGGTATGTT[A/G]TCTCGCTGAACCACCGGGGCCTGGA
Phenotype
MIM: 300204
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MID2 PubMed Links

Gene Details

Gene
MID2
Gene Name
midline 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012216.3 820 Missense Mutation ATC,GTC I83V NP_036348.2
NM_052817.2 820 Missense Mutation ATC,GTC I83V NP_438112.2
XM_005262062.4 820 Missense Mutation ATC,GTC I63V XP_005262119.1
XM_017029239.1 820 Missense Mutation ATC,GTC I63V XP_016884728.1

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