Product Details

SNP ID

rs1126673

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.4:99124465 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

CTTCAAAAGATGAGGATTGTTCGGA[C/T]GCTGTTAATAACAATAAAACATTAA

Phenotype

MIM: 103740

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADH4 PubMed Links

Gene Details

Gene

ADH4

Gene Name

alcohol dehydrogenase 4 (class II), pi polypeptide

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000670.4	1336	Missense Mutation	ATC,GTC	I374V	NP_000661.2
NM_001306171.1	1336	Missense Mutation	ATC,GTC	I393V	NP_001293100.1
NM_001306172.1	1336	Missense Mutation	ATC,GTC	I393V	NP_001293101.1
XM_017007713.1	1336	Intron			XP_016863202.1
XM_017007714.1	1336	Intron			XP_016863203.1
XM_017007715.1	1336	Intron			XP_016863204.1

Gene

LOC100507053

Gene Name

uncharacterized LOC100507053

There are no transcripts associated with this gene.

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