Product Details

SNP ID

hCV25987025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:9407238 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGTTTACCTTTTAAATCCCGGC[A/G]CAAGCGAGTGCTGCCACTGGCCCTA

Phenotype

MIM: 603817 MIM: 607153

Polymorphism

A/G, Transition 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		Intron			NP_001305995.1
NM_001319067.1		Intron			NP_001305996.1
NM_001319068.1		Intron			NP_001305997.1
NM_001319069.1		Intron			NP_001305998.1
NM_001319070.1		Intron			NP_001305999.1
NM_004763.4		Intron			NP_004754.1
NM_022334.4		Intron			NP_071729.1

View Full Product Details