Product Details

SNP ID

rs149065283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31779018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGCGGCACCTTGACAGGATAGCC[C/T]GAGGCAGCACGGCGTTCCCGCAGAC

Phenotype

MIM: 192150 MIM: 609693

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

VARS PubMed Links

Gene Details

Gene

VARS

Gene Name

valyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006295.2	4094	Silent Mutation	TCA,TCG	S1225S	NP_006286.1
XM_005249362.2	4094	Silent Mutation	TCA,TCG	S1226S	XP_005249419.1
XM_017011246.1	4094	Silent Mutation	TCA,TCG	S643S	XP_016866735.1
XM_017011247.1	4094	Silent Mutation	TCA,TCG	S643S	XP_016866736.1

Gene

VWA7

Gene Name

von Willebrand factor A domain containing 7

There are no transcripts associated with this gene.

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