Product Details

SNP ID

rs138077680

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219502418 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATCCCTCAACTACGGCTGCATC[A/G]TTGAGAATCCACAGACACACGAGGT

Phenotype

MIM: 615495 MIM: 615950

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GMPPA PubMed Links

Gene Details

Gene

GMPPA

Gene Name

GDP-mannose pyrophosphorylase A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013335.3	489	Missense Mutation	ATT,GTT	I156V	NP_037467.2
NM_205847.2	489	Missense Mutation	ATT,GTT	I156V	NP_995319.1
XM_005246483.3	489	Missense Mutation	ATT,GTT	I156V	XP_005246540.1
XM_005246486.3	489	Missense Mutation	ATT,GTT	I156V	XP_005246543.1
XM_011511032.2	489	Missense Mutation	ATT,GTT	I156V	XP_011509334.1
XM_017003906.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859395.1
XM_017003907.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859396.1
XM_017003908.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859397.1
XM_017003909.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859398.1
XM_017003910.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859399.1
XM_017003911.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859400.1
XM_017003912.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859401.1
XM_017003913.1	489	Missense Mutation	ATT,GTT	I156V	XP_016859402.1
XM_017003914.1	489	Missense Mutation	ATT,GTT	I31V	XP_016859403.1
XM_017003915.1	489	Missense Mutation	ATT,GTT	I31V	XP_016859404.1
XM_017003916.1	489	Missense Mutation	ATT,GTT	I31V	XP_016859405.1
XM_017003917.1	489	Missense Mutation	ATT,GTT	I31V	XP_016859406.1

Gene

LOC100996693

Gene Name

CAVP-target protein-like

There are no transcripts associated with this gene.

Gene

SPEG

Gene Name

SPEG complex locus

There are no transcripts associated with this gene.

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