Product Details

SNP ID

rs2303698

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7921712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCTGGCTTCACTCAGGTCTGGA[C/T]GGATCTGGCTGAGAAGATAACAGGG

Phenotype

MIM: 600135 MIM: 603014 MIM: 605076 MIM: 605058

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTXN1 PubMed Links

Gene Details

Gene

CTXN1

Gene Name

cortexin 1

There are no transcripts associated with this gene.

Gene

MAP2K7

Gene Name

mitogen-activated protein kinase kinase 7

There are no transcripts associated with this gene.

Gene

SNAPC2

Gene Name

small nuclear RNA activating complex polypeptide 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003083.3	369	Missense Mutation	ACG,ATG	T104M	NP_003074.1

Gene

TGFBR3L

Gene Name

transforming growth factor beta receptor 3 like

There are no transcripts associated with this gene.

Gene

TIMM44

Gene Name

translocase of inner mitochondrial membrane 44

There are no transcripts associated with this gene.

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