Product Details

SNP ID

rs147239672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:195279356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATTTCTGTGAATCTTGCTGGAAA[C/T]GATTTAGTTTCTCTGGATTATTGGA

Phenotype

MIM: 607766 MIM: 614552

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACAP2 PubMed Links

Gene Details

Gene

ACAP2

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012287.5	2676	Missense Mutation	CAT,CGT	H770R	NP_036419.3
XM_006713557.3	2676	Missense Mutation	CAT,CGT	H777R	XP_006713620.1
XM_011512602.2	2676	Missense Mutation	CAT,CGT	H812R	XP_011510904.1
XM_011512603.2	2676	Missense Mutation	CAT,CGT	H805R	XP_011510905.1
XM_011512604.2	2676	Missense Mutation	CAT,CGT	H768R	XP_011510906.1
XM_011512605.2	2676	Missense Mutation	CAT,CGT	H768R	XP_011510907.1
XM_011512606.2	2676	Missense Mutation	CAT,CGT	H768R	XP_011510908.1
XM_017006046.1	2676	Missense Mutation	CAT,CGT	H840R	XP_016861535.1
XM_017006047.1	2676	Missense Mutation	CAT,CGT	H833R	XP_016861536.1
XM_017006048.1	2676	Missense Mutation	CAT,CGT	H805R	XP_016861537.1
XM_017006049.1	2676	Missense Mutation	CAT,CGT	H798R	XP_016861538.1

Gene

XXYLT1

Gene Name

xyloside xylosyltransferase 1

There are no transcripts associated with this gene.

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