Product Details

SNP ID

rs200325781

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:150267103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCGATGTCAGTAGGTGACTCCCA[A/G]CCACCAGGCCCAAAGCCCAGTACCG

Phenotype

MIM: 607629 MIM: 604832

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APH1A PubMed Links

Gene Details

Gene

APH1A

Gene Name

aph-1 homolog A, gamma-secretase subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077628.2	980	Missense Mutation	GCT,GTT	A194V	NP_001071096.1
NM_001243771.1	980	Missense Mutation	GCT,GTT	A137V	NP_001230700.1
NM_001243772.1	980	Missense Mutation	GCT,GTT	A124V	NP_001230701.1
NM_016022.3	980	Missense Mutation	GCT,GTT	A194V	NP_057106.2
XM_017001417.1	980	Missense Mutation	GCT,GTT	A137V	XP_016856906.1

Gene

C1orf54

Gene Name

chromosome 1 open reading frame 54

There are no transcripts associated with this gene.

Gene

CA14

Gene Name

carbonic anhydrase 14

There are no transcripts associated with this gene.

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