Product Details

SNP ID

rs200952589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119633421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGACTCGCTGGACGAACATCTGT[C/T]TCATCTCCTCTTCTTTTTTCTGGAG

Phenotype

MIM: 300683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SEPT6 PubMed Links

Gene Details

Gene

SEPT6

Gene Name

septin 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015129.5	1101	Missense Mutation	AAA,AGA	K343R	NP_055944.2
NM_145799.3	1101	Missense Mutation	AAA,AGA	K343R	NP_665798.1
NM_145800.3	1101	Missense Mutation	AAA,AGA	K343R	NP_665799.1
NM_145802.3	1101	Missense Mutation	AAA,AGA	K343R	NP_665801.1
XM_005262400.3	1101	Missense Mutation	AAA,AGA	K343R	XP_005262457.1
XM_006724748.2	1101	Missense Mutation	AAA,AGA	K343R	XP_006724811.1
XM_006724750.2	1101	Missense Mutation	AAA,AGA	K343R	XP_006724813.1
XM_011531317.2	1101	Missense Mutation	AAA,AGA	K343R	XP_011529619.1
XM_011531318.2	1101	Missense Mutation	AAA,AGA	K343R	XP_011529620.1

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