Product Details

SNP ID

rs75685607

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64747250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCATGGTGCATGAGCATATTGAC[A/C]ATGTCCTTGAACAGGTCGGGCTGTT

Phenotype

MIM: 608455 MIM: 605577

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PYGM PubMed Links

Gene Details

Gene

PYGM

Gene Name

phosphorylase, glycogen, muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164716.1	2839	Missense Mutation	ATG,ATT	M674I	NP_001158188.1

Gene

RASGRP2

Gene Name

RAS guanyl releasing protein 2

There are no transcripts associated with this gene.

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