Product Details

SNP ID

rs6571653

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21090399 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCCACCCTCCTACGCCCGCCGC[C/G]CCTTCCACCTCTGGTCCGCCTGGGG

Phenotype

MIM: 610018 MIM: 605036

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

ARHGEF40 PubMed Links

Additional Information

For this assay, SNP(s) [rs141238761,rs200238223] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ARHGEF40

Gene Name

Rho guanine nucleotide exchange factor 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278529.1	2474	Intron			NP_001265458.1
NM_001278530.1	2474	Intron			NP_001265459.1
NM_018071.4	2474	Intron			NP_060541.3
XM_005267844.2	2474	Intron			XP_005267901.1
XM_011536937.2	2474	Intron			XP_011535239.1
XM_011536938.2	2474	Intron			XP_011535240.1
XM_017021434.1	2474	Intron			XP_016876923.1
XM_017021435.1	2474	Intron			XP_016876924.1
XM_017021436.1	2474	Intron			XP_016876925.1
XM_017021437.1	2474	Intron			XP_016876926.1

Gene

TMEM253

Gene Name

transmembrane protein 253

There are no transcripts associated with this gene.

Gene

ZNF219

Gene Name

zinc finger protein 219

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101672.1	2474	UTR 3			NP_001095142.1
NM_001102454.1	2474	UTR 3			NP_001095924.1
NM_016423.2	2474	UTR 3			NP_057507.2
XM_005267739.1	2474	UTR 3			XP_005267796.1
XM_006720163.2	2474	UTR 3			XP_006720226.1
XM_006720164.3	2474	UTR 3			XP_006720227.1
XM_011536825.1	2474	UTR 3			XP_011535127.1
XM_017021354.1	2474	UTR 3			XP_016876843.1
XM_017021355.1	2474	UTR 3			XP_016876844.1

View Full Product Details