Product Details

SNP ID

rs2285270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:17297152 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAAAGTTTGTATTCTGATTTTACA[A/C]GATGAGATAGAAATCAGAATTAAAG

Phenotype

MIM: 603562 MIM: 609927

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MTMR7 PubMed Links

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	4621	UTR 3			NP_004677.3
XM_006716414.3	4621	Intron			XP_006716477.2
XM_011544692.2	4621	Intron			XP_011542994.1
XM_011544693.2	4621	Intron			XP_011542995.1
XM_017013956.1	4621	UTR 3			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	4621	UTR 3			NP_001138624.1
NM_152415.2	4621	UTR 3			NP_689628.2
XM_005273400.2	4621	UTR 3			XP_005273457.1
XM_005273401.2	4621	UTR 3			XP_005273458.1
XM_006716286.1	4621	UTR 3			XP_006716349.1
XM_017013021.1	4621	Intron			XP_016868510.1
XM_017013022.1	4621	Intron			XP_016868511.1
XM_017013023.1	4621	UTR 3			XP_016868512.1
XM_017013024.1	4621	UTR 3			XP_016868513.1
XM_017013025.1	4621	Intron			XP_016868514.1
XM_017013026.1	4621	UTR 3			XP_016868515.1

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