Product Details

Assay Reference Genome
Location

Chr.17:58216183 on build GRCh38

Cytoband

17q22

Species

Homo sapiens

Variation Type

Copy Number

Additional Information

Target Gene Details

Entrez Gene ID

54903

Gene Symbol

MKS1

Gene Name

Meckel syndrome, type 1

Gene Aliases

BBS13, MES, MKS, POC12

Location

Chr.17:58205436-58219605 on build GRCh38

Assay Gene Location

Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
MKS1	NM_001165927.1	4	386	NP_001159399.1
	NM_001321268.1	4	397	NP_001308197.1
	NM_001321269.1	4	397	NP_001308198.1
	NM_017777.3	4	397	NP_060247.2
	XM_005257485.3	4	318	XP_005257542.1
	XM_006721965.2	4	329	XP_006722028.1
	XM_011524957.2	4	377	XP_011523259.1
	XM_011524958.2	4	377	XP_011523260.1
	XM_011524959.2	4	376	XP_011523261.1
	XM_011524960.2	4	376	XP_011523262.1
	XM_017024803.1	4	345	XP_016880292.1
	XM_017024804.1	4	345	XP_016880293.1
	XM_017024805.1	4	351	XP_016880294.1
	AK000352.1	1	67	BAA91105.1
	AK301020.1	4	328
	AK310815.1	4	386
	BC010061.2	4	332	AAH10061.1
	DQ185029.1	4	397	AAZ94714.1

View Full Product Details