Product Details

SNP ID

rs114397779

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:132595025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGTTTTGCTTTTTGACCTTGGC[A/G]ATGTCGGCCTCCATGCCGCTTGAGT

Phenotype

MIM: 605211 MIM: 616533

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

BARHL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs306547] 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

BARHL1

Gene Name

BarH like homeobox 1

There are no transcripts associated with this gene.

Gene

DDX31

Gene Name

DEAD-box helicase 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322340.1	2053	Silent Mutation	ATC,ATT	I726I	NP_001309269.1
NM_001322341.1	2053	Silent Mutation	ATC,ATT	I703I	NP_001309270.1
NM_001322342.1	2053	Silent Mutation	ATC,ATT	I622I	NP_001309271.1
NM_001322343.1	2053	Silent Mutation	ATC,ATT	I670I	NP_001309272.1
NM_001322344.1	2053	Intron			NP_001309273.1
NM_022779.8	2053	Silent Mutation	ATC,ATT	I799I	NP_073616.6
NM_138620.1	2053	Intron			NP_619526.1
XM_005272207.4	2053	Silent Mutation	ATC,ATT	I703I	XP_005272264.1
XM_006717236.3	2053	UTR 3			XP_006717299.1
XM_011518921.2	2053	Intron			XP_011517223.1
XM_011518922.2	2053	Intron			XP_011517224.1

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