Product Details

SNP ID
rs149251662
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:64970137 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCTGTCTACCATGAAATCAATGG[C/T]ATCAGCCATCATAGGGTCCACCGGG
Phenotype
MIM: 608181
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPG21 PubMed Links

Gene Details

Gene
SPG21
Gene Name
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127889.4 763 Missense Mutation ACC,GCC T180A NP_001121361.1
NM_001127890.4 763 Missense Mutation ACC,GCC T153A NP_001121362.1
NM_016630.6 763 Missense Mutation ACC,GCC T180A NP_057714.1
XM_005254437.4 763 Missense Mutation ACC,GCC T180A XP_005254494.1
XM_017022297.1 763 Missense Mutation ACC,GCC T180A XP_016877786.1
XM_017022298.1 763 Missense Mutation ACC,GCC T180A XP_016877787.1

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