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SNP ID

rs200135624

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:42163544 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTCCTGAGTTTCCCAACCCTGG[A/G]CTCCTGGGGCTCCTGGAGGTCTTTG

Phenotype

MIM: 139392 MIM: 601271

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GUCA2A PubMed Links

Gene Details

Gene

GUCA2A

Gene Name

guanylate cyclase activator 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033553.2	154	Missense Mutation	CCC,TCC	P48S	NP_291031.2

Gene

GUCA2B

Gene Name

guanylate cyclase activator 2B

There are no transcripts associated with this gene.

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