Product Details

SNP ID

rs140901351

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:203439501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGGAGCAGGAGGGGGTCCTCTC[C/T]GCAACGTTGCATAGCCTGATATATG

Phenotype

MIM: 606442 MIM: 609035

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABI2 PubMed Links

Gene Details

Gene

ABI2

Gene Name

abl-interactor 2

There are no transcripts associated with this gene.

Gene

RAPH1

Gene Name

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203365.3	3770	Intron			NP_976241.1
NM_213589.2	3770	Missense Mutation	CAG,CGG	Q1230R	NP_998754.1
XM_005246777.3	3770	Missense Mutation	CAG,CGG	Q1282R	XP_005246834.1
XM_005246779.4	3770	Missense Mutation	CAG,CGG	Q1282R	XP_005246836.1
XM_006712695.3	3770	Missense Mutation	CAG,CGG	Q1282R	XP_006712758.1
XM_011511646.2	3770	Missense Mutation	CAG,CGG	Q1282R	XP_011509948.1
XM_011511647.1	3770	Missense Mutation	CAG,CGG	Q1257R	XP_011509949.1
XM_011511648.1	3770	Missense Mutation	CAG,CGG	Q1255R	XP_011509950.1
XM_011511649.2	3770	Intron			XP_011509951.1

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