Product Details

SNP ID

rs142161778

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:17300169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGAGTGCTTGCTGGGCTCACTT[G/T]GCTTACTCTTCACCTTAGTGCAATT

Phenotype

MIM: 603562 MIM: 609927

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MTMR7 PubMed Links

Additional Information

For this assay, SNP(s) [rs3764796] 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

MTMR7

Gene Name

myotubularin related protein 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004686.4	1604	Missense Mutation	CAA,CCA	Q559P	NP_004677.3
XM_006716414.3	1604	Intron			XP_006716477.2
XM_011544692.2	1604	Missense Mutation	CAA,CCA	Q338P	XP_011542994.1
XM_011544693.2	1604	Intron			XP_011542995.1
XM_017013956.1	1604	Missense Mutation	CAA,CCA	Q271P	XP_016869445.1

Gene

VPS37A

Gene Name

VPS37A, ESCRT-I subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145152.1	1604	Intron			NP_001138624.1
NM_152415.2	1604	Intron			NP_689628.2
XM_005273400.2	1604	Intron			XP_005273457.1
XM_005273401.2	1604	Intron			XP_005273458.1
XM_006716286.1	1604	Intron			XP_006716349.1
XM_017013021.1	1604	Intron			XP_016868510.1
XM_017013022.1	1604	Intron			XP_016868511.1
XM_017013023.1	1604	Intron			XP_016868512.1
XM_017013024.1	1604	Intron			XP_016868513.1
XM_017013025.1	1604	Intron			XP_016868514.1
XM_017013026.1	1604	Intron			XP_016868515.1

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