Product Details

SNP ID

rs61741211

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144510484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCCATCGCTGGCTCCTCCCTGGG[A/T]GGGACCTTGCTGGCCAAGCACTGGT

Phenotype

MIM: 138200 MIM: 609172 MIM: 603780

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GPT PubMed Links

Gene Details

Gene

GPT

Gene Name

glutamic--pyruvic transaminase

There are no transcripts associated with this gene.

Gene

LOC101928953

Gene Name

uncharacterized LOC101928953

There are no transcripts associated with this gene.

Gene

LRRC14

Gene Name

leucine rich repeat containing 14

There are no transcripts associated with this gene.

Gene

MFSD3

Gene Name

major facilitator superfamily domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138431.2	2052	Silent Mutation	GGA,GGT	G269G	NP_612440.1
XM_011516806.2	2052	Missense Mutation	AGG,TGG	R267W	XP_011515108.1
XM_017013005.1	2052	Silent Mutation	GGA,GGT	G269G	XP_016868494.1

Gene

PPP1R16A

Gene Name

protein phosphatase 1 regulatory subunit 16A

There are no transcripts associated with this gene.

Gene

RECQL4

Gene Name

RecQ like helicase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004260.3	2052	Intron			NP_004251.3
XM_011517384.2	2052	Intron			XP_011515686.1
XM_017013991.1	2052	Intron			XP_016869480.1
XM_017013992.1	2052	Intron			XP_016869481.1
XM_017013993.1	2052	Intron			XP_016869482.1
XM_017013994.1	2052	Intron			XP_016869483.1
XM_017013995.1	2052	Intron			XP_016869484.1
XM_017013996.1	2052	Intron			XP_016869485.1
XM_017013997.1	2052	Intron			XP_016869486.1
XM_017013998.1	2052	Intron			XP_016869487.1
XM_017013999.1	2052	Intron			XP_016869488.1
XM_017014000.1	2052	Intron			XP_016869489.1
XM_017014001.1	2052	Intron			XP_016869490.1

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