Product Details

SNP ID

rs200002005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:35534884 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCCACGGACTGCGCGTCTGGAC[A/C]CGCGGCCGCGGGAATCAAGAAGCCA

Phenotype

MIM: 614027 MIM: 608884

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

INSM2 PubMed Links

Gene Details

Gene

INSM2

Gene Name

INSM transcriptional repressor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032594.3	843	Missense Mutation	CAC,CCC	H211P	NP_115983.3

Gene

RALGAPA1

Gene Name

Ral GTPase activating protein catalytic alpha subunit 1

There are no transcripts associated with this gene.

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