Product Details

SNP ID
rs192547609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:136228677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTCCTCTTTTTCTCTTTGTTCA[C/T]GAGCAAGGCGGCGCAATTCTGTCAA
Phenotype
MIM: 300930
Polymorphism
C/T, Transition 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 1905 Missense Mutation CAT,CGT H593R NP_001166987.1
NM_001173517.1 1905 Missense Mutation CAT,CGT H576R NP_001166988.1
NM_024597.3 1905 Missense Mutation CAT,CGT H611R NP_078873.2
XM_005262472.1 1905 Missense Mutation CAT,CGT H610R XP_005262529.1
XM_017029843.1 1905 Missense Mutation CAT,CGT H597R XP_016885332.1

View Full Product Details