Product Details

SNP ID

rs200813994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49480311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTCCCCAGACTCCTCAACCCT[G/T]CCACCCCCATGGAGTCCCCGGCCCC

Phenotype

MIM: 613358 MIM: 600007

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ALDH16A1 PubMed Links

Gene Details

Gene

ALDH16A1

Gene Name

aldehyde dehydrogenase 16 family member A1

There are no transcripts associated with this gene.

Gene

FLT3LG

Gene Name

fms related tyrosine kinase 3 ligand

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204502.1	457	Silent Mutation	CTG,CTT	L165L	NP_001191431.1
NM_001204503.1	457	Silent Mutation	CTG,CTT	L165L	NP_001191432.1
NM_001278637.1	457	Silent Mutation	CTG,CTT	L83L	NP_001265566.1
NM_001278638.1	457	Silent Mutation	CTG,CTT	L83L	NP_001265567.1
NM_001459.3	457	Silent Mutation	CTG,CTT	L165L	NP_001450.2
XM_005258680.4	457	Silent Mutation	CTG,CTT	L147L	XP_005258737.3
XM_005258681.4	457	Silent Mutation	CTG,CTT	L147L	XP_005258738.3
XM_005258682.4	457	Missense Mutation	TGC,TTC	C119F	XP_005258739.3
XM_005258683.4	457	Missense Mutation	TGC,TTC	C119F	XP_005258740.3
XM_006723116.3	457	Missense Mutation	TGC,TTC	C119F	XP_006723179.2
XM_011526675.2	457	Intron			XP_011524977.1
XM_011526676.2	457	Intron			XP_011524978.1
XM_011526677.2	457	Intron			XP_011524979.1
XM_011526678.2	457	Intron			XP_011524980.1
XM_011526680.2	457	Intron			XP_011524982.1
XM_011526682.2	457	Silent Mutation	CTG,CTT	L83L	XP_011524984.1
XM_017026532.1	457	Missense Mutation	TGC,TTC	C119F	XP_016882021.1
XM_017026533.1	457	Intron			XP_016882022.1
XM_017026534.1	457	Intron			XP_016882023.1
XM_017026535.1	457	Silent Mutation	CTG,CTT	L65L	XP_016882024.1

Gene

RPL13A

Gene Name

ribosomal protein L13a

There are no transcripts associated with this gene.

Gene

SNORD32A

Gene Name

small nucleolar RNA, C/D box 32A

There are no transcripts associated with this gene.

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