Product Details

SNP ID

rs145045333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:9408148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTTGATACTTTTATGCCATACT[G/T]GGAAACTCCCATAATAAATTCTTCC

Phenotype

MIM: 603817 MIM: 607153

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ASAP2 PubMed Links

Gene Details

Gene

ASAP2

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

There are no transcripts associated with this gene.

Gene

ITGB1BP1

Gene Name

integrin subunit beta 1 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319066.1	1229	Missense Mutation	AAG,CAG	K116Q	NP_001305995.1
NM_001319067.1	1229	Missense Mutation	AAG,CAG	K116Q	NP_001305996.1
NM_001319068.1	1229	Missense Mutation	AAG,CAG	K116Q	NP_001305997.1
NM_001319069.1	1229	Missense Mutation	AAG,CAG	K72Q	NP_001305998.1
NM_001319070.1	1229	Missense Mutation	AAG,CAG	K44Q	NP_001305999.1
NM_004763.4	1229	Missense Mutation	AAG,CAG	K116Q	NP_004754.1
NM_022334.4	1229	Missense Mutation	AAG,CAG	K116Q	NP_071729.1
XM_005246183.4	1229	Missense Mutation	AAG,CAG	K116Q	XP_005246240.1
XM_005246184.4	1229	Missense Mutation	AAG,CAG	K116Q	XP_005246241.1
XM_005246185.4	1229	Missense Mutation	AAG,CAG	K116Q	XP_005246242.1
XM_005246189.4	1229	Missense Mutation	AAG,CAG	K116Q	XP_005246246.1
XM_006711903.3	1229	Missense Mutation	AAG,CAG	K116Q	XP_006711966.1
XM_011510416.2	1229	Missense Mutation	AAG,CAG	K116Q	XP_011508718.1
XM_017005267.1	1229	Missense Mutation	AAG,CAG	K116Q	XP_016860756.1
XM_017005268.1	1229	Missense Mutation	AAG,CAG	K116Q	XP_016860757.1
XM_017005269.1	1229	Missense Mutation	AAG,CAG	K116Q	XP_016860758.1
XM_017005270.1	1229	Missense Mutation	AAG,CAG	K116Q	XP_016860759.1

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