Product Details

SNP ID

rs189055696

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:149721503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCGTGTTCCAGTGGCCCAACTG[G/T]TGACGGGGTCCAGGGAAGTCCTCTC

Phenotype

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

KRBA1 PubMed Links

Additional Information

For this assay, SNP(s) [rs193130944] 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

KRBA1

Gene Name

KRAB-A domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290187.1	756	Missense Mutation	GGT,GTT	G179V	NP_001277116.1
NM_032534.3	756	Missense Mutation	GGT,GTT	G145V	NP_115923.2
XM_011516636.2	756	Missense Mutation	GGT,GTT	G217V	XP_011514938.1
XM_011516637.2	756	Missense Mutation	GGT,GTT	G216V	XP_011514939.1
XM_011516638.2	756	Missense Mutation	GGT,GTT	G202V	XP_011514940.1
XM_011516639.2	756	Missense Mutation	GGT,GTT	G217V	XP_011514941.1
XM_011516640.2	756	Missense Mutation	GGT,GTT	G216V	XP_011514942.1
XM_011516641.2	756	Missense Mutation	GGT,GTT	G180V	XP_011514943.1
XM_011516642.2	756	Missense Mutation	GGT,GTT	G145V	XP_011514944.1
XM_011516643.2	756	Missense Mutation	GGT,GTT	G145V	XP_011514945.1

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