Product Details

SNP ID

rs142147954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151082246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTGAATCATTGAGGAATTTCAG[C/T]CGTAGCACGAGGGGCTCCTGCGGGG

Phenotype

MIM: 616813 MIM: 606965 MIM: 109280 MIM: 614792

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AGAP3 PubMed Links

Gene Details

Gene

AGAP3

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

There are no transcripts associated with this gene.

Gene

FASTK

Gene Name

Fas activated serine/threonine kinase

There are no transcripts associated with this gene.

Gene

SLC4A2

Gene Name

solute carrier family 4 member 2

There are no transcripts associated with this gene.

Gene

TMUB1

Gene Name

transmembrane and ubiquitin like domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136044.1	448	Silent Mutation	CGA,CGG	R106R	NP_001129516.1
NM_031434.3	448	Silent Mutation	CGA,CGG	R106R	NP_113622.1

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