Product Details

SNP ID

rs200910750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41998870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACCGCCGCGGAGCCCTCATCCCT[A/G]ACGGTGAAAGGTGCCTGAGGGGAAG

Phenotype

MIM: 608314 MIM: 610981

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	146	Intron			NP_061979.3
NM_145733.2	146	Intron			NP_663786.2
XM_017028862.1	146	Intron			XP_016884351.1

Gene

WBP2NL

Gene Name

WBP2 N-terminal like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152613.2	146	Missense Mutation	AAC,GAC	N18D	NP_689826.2

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