Product Details

SNP ID

rs139619873

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7355293 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCCAGCCCACGACTTGTCAGGCC[A/G]CCTGGCTCGGCTCTGCAGCCAGATG

Phenotype

MIM: 607763 MIM: 609848

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACAP1 PubMed Links

Gene Details

Gene

ACAP1

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014716.3	180	Intron			NP_055531.1

Gene

KCTD11

Gene Name

potassium channel tetramerization domain containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002914.2	180	Intron			NP_001002914.1

Gene

TMEM95

Gene Name

transmembrane protein 95

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320435.1	180	Missense Mutation	CAC,CGC	H30R	NP_001307364.1
NM_001320436.1	180	Missense Mutation	CAC,CGC	H30R	NP_001307365.1
NM_198154.2	180	Missense Mutation	CAC,CGC	H30R	NP_937797.1
XM_017024565.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880054.1
XM_017024566.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880055.1
XM_017024567.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880056.1
XM_017024568.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880057.1
XM_017024569.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880058.1
XM_017024570.1	180	UTR 5			XP_016880059.1
XM_017024571.1	180	Missense Mutation	CAC,CGC	H30R	XP_016880060.1

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