Product Details

SNP ID

rs3744320

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:49209386 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTCTCCTAGCTCACTCTTCATCCA[A/C]TCATTCAATAAAAATGTCCTTGCTC

Phenotype

MIM: 606363 MIM: 139391

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ABI3 PubMed Links

Gene Details

Gene

ABI3

Gene Name

ABI family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135186.1	15	Intron			NP_001128658.1
NM_016428.2	15	Intron			NP_057512.1
XM_005257429.2	15	Intron			XP_005257486.1
XM_011524873.1	15	Intron			XP_011523175.1
XM_017024721.1	15	Intron			XP_016880210.1

Gene

GNGT2

Gene Name

G protein subunit gamma transducin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198754.1	15	Intron			NP_001185683.1
NM_001198755.1	15	UTR 5			NP_001185684.1
NM_001198756.1	15	UTR 5			NP_001185685.1
NM_031498.2	15	Intron			NP_113686.1

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