Product Details

SNP ID

rs149776933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:76003778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACCAATGAAGTGACACATGTGG[C/T]GTAAGAAGGGAAGAATCTGGGCTTC

Phenotype

MIM: 616695 MIM: 616550

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

STYXL1 PubMed Links

Gene Details

Gene

STYXL1

Gene Name

serine/threonine/tyrosine interacting-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317785.1	869	Missense Mutation	CAC,CGC	H226R	NP_001304714.1
NM_001317786.1	869	Missense Mutation	CAC,CGC	H226R	NP_001304715.1
NM_001317787.1	869	Missense Mutation	CAC,CGC	H130R	NP_001304716.1
NM_001317788.1	869	Missense Mutation	CAC,CGC	H130R	NP_001304717.1
NM_001317789.1	869	Missense Mutation	CAC,CGC	H88R	NP_001304718.1
NM_016086.2	869	Missense Mutation	CAC,CGC	H226R	NP_057170.1
XM_011516292.2	869	Missense Mutation	CAC,CGC	H226R	XP_011514594.1
XM_011516293.2	869	Missense Mutation	CAC,CGC	H226R	XP_011514595.1
XM_011516300.1	869	Missense Mutation	CAC,CGC	H88R	XP_011514602.1
XM_017012296.1	869	Missense Mutation	CAC,CGC	H264R	XP_016867785.1
XM_017012297.1	869	Missense Mutation	CAC,CGC	H226R	XP_016867786.1
XM_017012298.1	869	Missense Mutation	CAC,CGC	H226R	XP_016867787.1
XM_017012299.1	869	Missense Mutation	CAC,CGC	H264R	XP_016867788.1
XM_017012300.1	869	Missense Mutation	CAC,CGC	H148R	XP_016867789.1
XM_017012301.1	869	Missense Mutation	CAC,CGC	H88R	XP_016867790.1
XM_017012302.1	869	Missense Mutation	CAC,CGC	H88R	XP_016867791.1

Gene

TMEM120A

Gene Name

transmembrane protein 120A

There are no transcripts associated with this gene.

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