Product Details

SNP ID

rs139115533

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:150261629 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGCCTTTGGACCTGCACAACAAT[A/G]GCCACACAGGTAAAAGCACAGGCTC

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

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	562	Missense Mutation	AGC,GGC	S83G	NP_036245.1
XM_005245059.2	562	Missense Mutation	AGC,GGC	S83G	XP_005245116.1
XM_005245060.2	562	Missense Mutation	AGC,GGC	S83G	XP_005245117.1
XM_006711259.2	562	Missense Mutation	AGC,GGC	S83G	XP_006711322.1
XM_006711261.2	562	Missense Mutation	AGC,GGC	S27G	XP_006711324.1
XM_011509379.2	562	Missense Mutation	AGC,GGC	S69G	XP_011507681.1
XM_017000893.1	562	Missense Mutation	AGC,GGC	S27G	XP_016856382.1
XM_017000894.1	562	Missense Mutation	AGC,GGC	S83G	XP_016856383.1
XM_017000895.1	562	Missense Mutation	AGC,GGC	S83G	XP_016856384.1
XM_017000896.1	562	Missense Mutation	AGC,GGC	S27G	XP_016856385.1

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