Product Details

SNP ID

rs61755066

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144511748 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTCTGGCCTCAGGGACAGGAA[C/G]TGGCGGATGTCGCAGCGGACCTGGT

Phenotype

MIM: 138200 MIM: 609172 MIM: 603780

Polymorphism

C/G, 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	3279	Intron			NP_612440.1
XM_011516806.2	3279	Intron			XP_011515108.1
XM_017013005.1	3279	Intron			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	3279	Missense Mutation	CAC,CAG	H1145Q	NP_004251.3
XM_011517384.2	3279	Missense Mutation	CAC,CAG	H1079Q	XP_011515686.1
XM_017013991.1	3279	Missense Mutation	CTT,GTT	L1241V	XP_016869480.1
XM_017013992.1	3279	Missense Mutation	CTT,GTT	L1216V	XP_016869481.1
XM_017013993.1	3279	Missense Mutation	CTT,GTT	L1211V	XP_016869482.1
XM_017013994.1	3279	Missense Mutation	CTT,GTT	L1209V	XP_016869483.1
XM_017013995.1	3279	Missense Mutation	CTT,GTT	L1186V	XP_016869484.1
XM_017013996.1	3279	Missense Mutation	CAC,CAG	H1200Q	XP_016869485.1
XM_017013997.1	3279	Missense Mutation	CTT,GTT	L1175V	XP_016869486.1
XM_017013998.1	3279	Missense Mutation	CAC,CAG	H1175Q	XP_016869487.1
XM_017013999.1	3279	Missense Mutation	CTT,GTT	L1145V	XP_016869488.1
XM_017014000.1	3279	Missense Mutation	CTT,GTT	L862V	XP_016869489.1
XM_017014001.1	3279	Missense Mutation	CTT,GTT	L832V	XP_016869490.1

View Full Product Details