Product Details

SNP ID

rs138467583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:70882560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGAATCACTGGAGTAAATGTCA[A/G]AGAGAGAGGAAGTTCTAGACCACAA

Phenotype

MIM: 612538

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC49 PubMed Links

Gene Details

Gene

LRRC49

Gene Name

leucine rich repeat containing 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199017.2	829	Intron			NP_001185946.1
NM_001199018.2	829	Intron			NP_001185947.1
NM_001284357.1	829	Intron			NP_001271286.1
NM_017691.4	829	Intron			NP_060161.2
XM_005254492.4	829	Intron			XP_005254549.1
XM_011521715.2	829	Intron			XP_011520017.1
XM_011521717.2	829	Intron			XP_011520019.1
XM_011521718.2	829	Intron			XP_011520020.1
XM_017022357.1	829	Intron			XP_016877846.1
XM_017022358.1	829	Intron			XP_016877847.1
XM_017022359.1	829	Intron			XP_016877848.1

Gene

THAP10

Gene Name

THAP domain containing 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020147.3	829	Missense Mutation	TCT,TTT	S223F	NP_064532.1

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