Product Details

SNP ID

rs201184368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35033525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCGCTATGAGAATGAGGTGTT[A/G]CAGCTGGAGGAGGATGAGCGCTTCG

Phenotype

MIM: 142440 MIM: 600235

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GRAMD1A PubMed Links

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	607	Silent Mutation	TTA,TTG	L78L	NP_001028.1
NM_001321605.1	607	Silent Mutation	TTA,TTG	L45L	NP_001308534.1
NM_199037.4	607	Silent Mutation	TTA,TTG	L78L	NP_950238.1

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