Product Details

SNP ID

rs62118841

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:9406889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGCGGTGGATAAAACCTTGCAA[A/T]TGGCTTGTGCTTGTTCCTACATTAC

Phenotype

MIM: 603817 MIM: 607153

Polymorphism

A/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	1281	Missense Mutation	AAT,ATT	N183I	NP_001305995.1
NM_001319067.1	1281	Missense Mutation	AAT,ATT	N183I	NP_001305996.1
NM_001319068.1	1281	Missense Mutation	AAT,ATT	N183I	NP_001305997.1
NM_001319069.1	1281	Missense Mutation	AAT,ATT	N139I	NP_001305998.1
NM_001319070.1	1281	Missense Mutation	AAT,ATT	N111I	NP_001305999.1
NM_004763.4	1281	Missense Mutation	AAT,ATT	N183I	NP_004754.1
NM_022334.4	1281	Missense Mutation	AAT,ATT	N133I	NP_071729.1
XM_005246183.4	1281	Missense Mutation	AAT,ATT	N183I	XP_005246240.1
XM_005246184.4	1281	Missense Mutation	AAT,ATT	N183I	XP_005246241.1
XM_005246185.4	1281	Missense Mutation	AAT,ATT	N183I	XP_005246242.1
XM_005246189.4	1281	Missense Mutation	AAT,ATT	N133I	XP_005246246.1
XM_006711903.3	1281	Missense Mutation	AAT,ATT	N183I	XP_006711966.1
XM_011510416.2	1281	Missense Mutation	AAT,ATT	N183I	XP_011508718.1
XM_017005267.1	1281	Missense Mutation	AAT,ATT	N183I	XP_016860756.1
XM_017005268.1	1281	Missense Mutation	AAT,ATT	N183I	XP_016860757.1
XM_017005269.1	1281	Missense Mutation	AAT,ATT	N133I	XP_016860758.1
XM_017005270.1	1281	Missense Mutation	AAT,ATT	N133I	XP_016860759.1

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