Product Details

SNP ID

rs200126026

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35033699 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCGAAAACTACGAGCACAACAC[C/T]AGCGTCGTCAAGAAGATCCACATTG

Phenotype

MIM: 142440 MIM: 600235

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GRAMD1A PubMed Links

Additional Information

For this assay, SNP(s) [rs72558029] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GRAMD1A

Gene Name

GRAM domain containing 1A

There are no transcripts associated with this gene.

Gene

HPN

Gene Name

hepsin

There are no transcripts associated with this gene.

Gene

SCN1B

Gene Name

sodium voltage-gated channel beta subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037.4	781	Silent Mutation	ACC,ACT	T136T	NP_001028.1
NM_001321605.1	781	Silent Mutation	ACC,ACT	T103T	NP_001308534.1
NM_199037.4	781	Silent Mutation	ACC,ACT	T136T	NP_950238.1

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