Product Details

SNP ID

rs2296228

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:150260371 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

AATCATCAAATCCTACACCTCCTGA[C/T]TTGGCAGAAAAGCTAGTTAAGTCCT

Phenotype

MIM: 607629 MIM: 604832

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

APH1A PubMed Links

Gene Details

Gene

APH1A

Gene Name

aph-1 homolog A, gamma-secretase subunit

There are no transcripts associated with this gene.

Gene

CA14

Gene Name

carbonic anhydrase 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012113.2		Intron			NP_036245.1
XM_005245059.2		Intron			XP_005245116.1
XM_005245060.2		Intron			XP_005245117.1
XM_006711259.2		Intron			XP_006711322.1
XM_006711261.2		Intron			XP_006711324.1
XM_011509379.2		Intron			XP_011507681.1
XM_017000893.1		Intron			XP_016856382.1
XM_017000894.1		Intron			XP_016856383.1
XM_017000895.1		Intron			XP_016856384.1
XM_017000896.1		Intron			XP_016856385.1

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