Product Details

SNP ID

rs143294686

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89510491 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATTGTTTTTTTTTTTTTTTCAGA[A/G]CTTACAATTGAGACTGCTAACCCCT

Phenotype

MIM: 602783

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

SPG7 PubMed Links

Additional Information

For this assay, SNP(s) [rs5818722] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

SPG7

Gene Name

SPG7, paraplegin matrix AAA peptidase subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003119.3	224	Missense Mutation	AAC,AGC	N62S	NP_003110.1
NM_199367.2	224	Missense Mutation	AAC,AGC	N62S	NP_955399.1
XM_005256321.4	224	Missense Mutation	AAC,AGC	N62S	XP_005256378.1
XM_006721264.3	224	Missense Mutation	AAC,AGC	N62S	XP_006721327.1
XM_017023597.1	224	Missense Mutation	AAC,AGC	N62S	XP_016879086.1
XM_017023598.1	224	Missense Mutation	AAC,AGC	N62S	XP_016879087.1
XM_017023599.1	224	Missense Mutation	AAC,AGC	N62S	XP_016879088.1

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