Product Details

SNP ID

rs2238142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:47755969 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCTCAAATATAGGCATGATGGAA[G/T]GAAACCTCCCCACCCCAGTCCCCAA

Phenotype

MIM: 606057 MIM: 612187

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RAPGEF3 PubMed Links

Gene Details

Gene

RAPGEF3

Gene Name

Rap guanine nucleotide exchange factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098531.2		Intron			NP_001092001.1
NM_001098532.2		Intron			NP_001092002.1
NM_006105.5		Intron			NP_006096.2
XM_005268571.3		Intron			XP_005268628.1
XM_011537752.1		Intron			XP_011536054.1
XM_011537755.1		Intron			XP_011536057.1
XM_011537758.2		Intron			XP_011536060.1
XM_017018688.1		Intron			XP_016874177.1

Gene

SLC48A1

Gene Name

solute carrier family 48 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017842.2		Intron			NP_060312.2
XM_005269016.4		Intron			XP_005269073.1
XM_011538558.2		Intron			XP_011536860.1
XM_017019612.1		Intron			XP_016875101.1
XM_017019613.1		Intron			XP_016875102.1
XM_017019614.1		Intron			XP_016875103.1
XM_017019615.1		Intron			XP_016875104.1
XM_017019616.1		Intron			XP_016875105.1
XM_017019617.1		Intron			XP_016875106.1

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