Product Details

SNP ID

rs200920607

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:150983422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATGCGCAGAGGCTACTGAGGGCC[A/G]TTACTGGCCAAGGTGAGCCCCTTTC

Phenotype

MIM: 603319 MIM: 606920

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANXA9 PubMed Links

Gene Details

Gene

ANXA9

Gene Name

annexin A9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003568.2	349	Missense Mutation	ATT,GTT	I54V	NP_003559.2
XM_011510058.2	349	Missense Mutation	ATT,GTT	I54V	XP_011508360.1

Gene

CERS2

Gene Name

ceramide synthase 2

There are no transcripts associated with this gene.

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