Product Details

SNP ID

rs916440

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41971833 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCAGCTCCATCTCCTTGACTCTCC[A/G]TCAGAACAGCCAGGCACGGTCCCTG

Phenotype

MIM: 608314

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SEPT3 PubMed Links

Gene Details

Gene

SEPT3

Gene Name

septin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019106.5	583	Intron			NP_061979.3
NM_145733.2	583	Intron			NP_663786.2
XM_017028862.1	583	Missense Mutation	CAT,CGT	H114R	XP_016884351.1

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