Product Details

SNP ID
rs200510790
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:136228631 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGACTTTGTGCTGACCTTTGCTG[A/C]ATTTCTTCCCGTTGTCTTTCTTCTT
Phenotype
MIM: 300930
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MAP7D3 PubMed Links

Gene Details

Gene
MAP7D3
Gene Name
MAP7 domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173516.1 1951 Missense Mutation ATG,ATT M608I NP_001166987.1
NM_001173517.1 1951 Missense Mutation ATG,ATT M591I NP_001166988.1
NM_024597.3 1951 Missense Mutation ATG,ATT M626I NP_078873.2
XM_005262472.1 1951 Missense Mutation ATG,ATT M625I XP_005262529.1
XM_017029843.1 1951 Missense Mutation ATG,ATT M612I XP_016885332.1

View Full Product Details