Product Details

SNP ID

rs144665333

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:999705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCGACTTACCTCTTTTCTGAGG[A/G]CGTCCAGGATGAGGGTTTTGAGCTG

Phenotype

MIM: 608060

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HES4 PubMed Links

Gene Details

Gene

HES4

Gene Name

hes family bHLH transcription factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142467.1	468	Missense Mutation	GCC,GTC	A90V	NP_001135939.1
NM_021170.3	468	Missense Mutation	GCC,GTC	A64V	NP_066993.1
XM_005244771.4	468	Intron			XP_005244828.1

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