Product Details

SNP ID

rs146387570

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:240493148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGGACTCCTCCTCCTTCTTCA[C/G]GTGCCGCGGGATGTAGAAGGAGTTG

Phenotype

MIM: 608832

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GREM2 PubMed Links

Gene Details

Gene

GREM2

Gene Name

gremlin 2, DAN family BMP antagonist

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022469.3	608	Missense Mutation	CTG,GTG	L110V	NP_071914.3
XM_005273226.3	608	Missense Mutation	CTG,GTG	L128V	XP_005273283.1
XM_011544249.2	608	Missense Mutation	CTG,GTG	L110V	XP_011542551.1

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