Product Details

SNP ID

rs114896954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:38976557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTTACTTCACGGCAGCAGGCTT[C/G]TTCCTGTGTACAGTGGCTCTGGGTT

Phenotype

MIM: 610700 MIM: 607773

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HTRA4 PubMed Links

Gene Details

Gene

HTRA4

Gene Name

HtrA serine peptidase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153692.3	704	Missense Mutation	CTT,GTT	L197V	NP_710159.1
XM_011544431.2	704	Missense Mutation	CTT,GTT	L197V	XP_011542733.1
XM_011544432.1	704	Missense Mutation	CTT,GTT	L197V	XP_011542734.1

Gene

PLEKHA2

Gene Name

pleckstrin homology domain containing A2

There are no transcripts associated with this gene.

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