Product Details

SNP ID

rs199835580

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:102923775 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGACTTCGACGTCGCAGCCAACTG[C/G]AGCCAGAACCGGACCCCGTGCGCCG

Phenotype

MIM: 605799 MIM: 614062

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AMN PubMed Links

Gene Details

Gene

AMN

Gene Name

amnion associated transmembrane protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030943.3	141	Missense Mutation	TGC,TGG	C36W	NP_112205.2
XM_011537202.2	141	UTR 5			XP_011535504.1
XM_011537203.2	141	UTR 5			XP_011535505.1

Gene

CDC42BPB

Gene Name

CDC42 binding protein kinase beta

There are no transcripts associated with this gene.

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