Product Details

SNP ID

rs150465692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:55807229 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACAAAGAAGCATATCTCGGAGCT[C/T]AACGAAGTCACAGTGATTTTCATTT

Phenotype

MIM: 612140

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SEPT14 PubMed Links

Gene Details

Gene

SEPT14

Gene Name

septin 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207366.2	948	Missense Mutation	AAG,GAG	K283E	NP_997249.2
XM_011515373.2	948	Missense Mutation	AAG,GAG	K283E	XP_011513675.1

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